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    • Usman Omar GhaniChapter 3: Aims and objectives(Luders H: 2000)Aim:To critically evaluate the detection, diagnosis and management of Ohtaharasyndrome.Objectives:• To review the current literature describing the neurophysiology, aetiology and management of Ohtahara syndrome.• To identify and interview international experts and attain there opinions on Ohtahra syndrome.• Through the usage of a questionnaire, sample the current level of knowledge on Ohtahra syndrome in the health professionals in the United Kingdom.MSc Medical Diagnostics Thesis 71 August, 2002
    • Usman Omar Ghani• Through informal methods, obtain information from relatives of Ohtahara syndrome, concerning there present experiences of detection, diagnosis and management of Ohtahara syndrome.• To make preliminary recommendations as to the pathway for future research into Ohtahara syndrome.MSc Medical Diagnostics Thesis 72 August, 2002
    • Usman Omar Ghani3.1 Research methodologyMemory valley park, Sanfransisco (Luders H: 2000)IntroductionThere were many unanswered questions for Ohtahara syndrome and the only line ofcontact was Dr. Kamal Sawney, who was our consultant paediatrician at HighWycome hospital. The line of contact commenced with Dr. Sawney and subsequentrecommendations were given to approach Dr. Alison Shaw and Dr. Ian McShane atJohn Radcliff hospital, in Oxford. Other opinion formers who were approachedinclude Dr. Geoff woods (St. James Hospital in Leeds), Dr. Howard (Great Ormondstreet hospital in London), contact a family supporting group, and last but not leastDr. Ohtahara the preliminary founder of Ohtahara syndrome. Except Dr. Ohtahara andDr. Howard, all the remaining opinion formers had been interviewed under informalsurroundings at there practising locations. Dr, Ohtahara and Dr. Howard were incontact by forms of written and email exchanges.Contact was made with families touched by Ohtahara syndrome, commencing withTammie Horak (moderator and owner of the official Ohtahara web site), moving ontoSusan Titbits (who resides in the United Kingdom), and the Adams, Newton andHeelas families (with whom personal contact was made by either home visits ortelephone communication),MSc Medical Diagnostics Thesis 73 August, 2002
    • Usman Omar GhaniA questionnaire was designated to evaluate the current understanding of Ohtaharasyndrome in the medical community, and delivered by hand or posted to generalpractioneers, nurses and paediatrics at children’s wards.3.1 Contact with opinion formers.Dr. Kamal Sawney (consultant paediatrician at High Wycome hospital).Dr. Sawney was selected because of his close association with our encounter withOhtahara syndrome. He is a consultant paediatrician at High Wycome hospital, whomanaged our Ohtahara cases.Dr. Sawney had built a strong bond with me, and that made him very approachable,first contact was made via a phone conversation to arrange a meeting, which was setfor the 18th of April 20002, at High Wycome hospital.It was an informal meeting, which lasted for over two hours. There were no setquestions, prior to the meeting, just suggestions.Key notes were made during the meeting, specifically the names of further contactsand there addresses.Dr. Alison Shaw (senior social science lecturer at Brunel University).Dr. Shaw was also heavily involved with our experience with Ohtahara syndrome. Inaddition Dr. Sawney recommended that contact should be made with her.Dr. Shaw was approached by phone call and subsequent communication was achievedvia emails and telephone conversations.The communication with Dr. Shaw was informal and advice was attained on furtherlines of contact. There were set questions in place, specifically the original aims. Herviews on these aims were asked.Dr. Shaw’s views and recommendations were stored on email exchanges.MSc Medical Diagnostics Thesis 74 August, 2002
    • Usman Omar GhaniDr. Geoff Woods (consultant paediatric neurologist at St. James hospital, Leeds).Dr. Woods was selected for contact, because of his interests in rare metabolicdisorders and on the recommendations from Dr. Alison Shaw.A letter was written to Dr. Woods, explaining my research aims and objectives andasking for an appointment to see him. A reply from Dr. Woods gave me anopportunity to meet him at St. James hospital in Leeds, on the 15th of May 2002.The method of interview was based on set questions on my aims and his researchinterests. During the meeting written notes were taken on recommendations andfurther contacts.Howard (consultant paediatric neurologist at Great Ormand Street hospital).Dr. Howard was selected because of recommendations from Dr. Woods, whichsuggested that Dr. Howard was located in a specialist hospital for infants and theneurological experience Dr. Howard had would be beneficial to my research.An appointment for an interview was requested by written letter.Contact a familyThis support group was contacted because of recommendations by Dr. Woods, and inthat the group provided a support network for rare disorders. There was a hope ofmaking contact with families affected by Ohtahara syndrome.Initial contact was by telephone conversation and an address was attained, and a letterwas written asking for details on Ohtahara cases, in there group.The written letter, asked for any information they hold on Ohtahara syndrome and anyfurther contacts that can be suggested.A photo copy of the letter was kept for reference.MSc Medical Diagnostics Thesis 75 August, 2002
    • Usman Omar GhaniDr. Ian McShane (senior neurologist at John Radcliff hospital, in Oxford).Dr. McShane had been involved with our own experience with Ohtahara syndrome;he is also one of the senior paediatric neurologists in the United Kingdom. Dr.McShane has extensive experience backed up with over twenty five years experienceworking with infants touched by rare neurological disorders.A letter requesting an appointment was sent to Dr. McShane, which explained myresearch aims and objectives. The interview with Dr. McShane was structured withprior planned questions, which were sent to him in the original letter, in order that Dr.Mcshane had awareness of the issues being raised. The meeting was attended by meand Dr. Alison Shaw, the duration of the meeting lasted nearly two hours, and theinformation was assimilated on note form by me and Dr. Shaw.Dr. OhtaharaIt was extremely necessary to have the views and opinions of Dr. Ohtahara; after allhe was the founding father of this disorder.A group member from the Ohtahara site, James Pearce informed me that he has beentrying for some time to contact Dr. Ohtahara, without success. I attainedDr.Ohtahara’s email address from Mr. Pearce and wrote to him, explaining mypersonal and academic association with Ohtahara syndrome. No reply came, I thanlocated Dr. Ohtahara’s mail address from Mr. Pearce and wrote him a letter, with mymail and email address attached. A week later I received my first channel ofcommunication with Dr. Ohtahara, a brief email confirming receipt of my letter.The main line of communication with Dr. Ohtahara was primarily written letter andthen subsequent email exchanges. The first few emails were self explanatory on myown experience with Ohtahara syndrome, with latter emails placing suggestions to Dr.Ohtahara and asking for his recommendations.The replies from Dr. Ohtahara were printed from the computer and placed forreferencing.MSc Medical Diagnostics Thesis 76 August, 2002
    • Usman Omar Ghani3.2 Internet sitesTwo sites were selected for there support to rare inherited disorders, the first waswww.nord.org (national organization for rare disorders). This site was recommendedby Dr. Geoff Woods (St. James hospital, Leeds). It was selected because it gave asupport network to families of rare disorders.The second site was located at http://groups.yahoo.com/group/ohtaharasyndrome; itwas selected because it was the official site for Ohtahara syndrome families.Both sites had written opinions of family members and these opinions were in theform of posted emails, which included archives dating back to 1994.Relevant information from the posted emails was printed and used for references.3.3 Relatives of Ohtahara syndrome.Tammie HorakTammie Horak is the grandmother of an Ohtahara child Tyler. Initial contact withMrs. Horak was made through the official web site for Ohtahara families, which wasset up and moderated by Mrs. Horak.Being the site owner Mrs. Horak had been involved with many families and hadimmense knowledge on this disorder. I needed clarification of the official sitemembers and the contact details of other members who were not on site.The information given by Mrs. Horak was in the form of emails and written letters,and this information was printed and filed for reference purposes.MSc Medical Diagnostics Thesis 77 August, 2002
    • Usman Omar GhaniSusan TitbitsIt was through Tammie Horak that contact was made with Susan Titbits. Fromprevious posted emails on the Ohtahara web site, I was able to attain Mrs. Titbit’shome telephone number; this formed the bases for initial contact via a telephone call.I needed to attain information from Mrs. Titbits, on the number of Ohtahara familiesthat were in contact with her, and her own personal encounter with this syndrome.Contact addresses and telephone numbers of other family members touched byOhtahara syndrome, were noted.The Adams, Newton’s and Heelas families.The families were from the United Kingdom. The initial contact was achieved via thetelephone and a meeting was arranged at there residence.I needed to gain personal insight into there daily management of this disorder, whicheffected there child. I needed to know at what age was there child diagnosed of havingOhtahara syndrome? What medication was given? If any further investigations wereplanned by there neurologist?The information gained from the personal visits noted on written paper and furthercontact details of the children’s neurologist were taken.3.4 Ohtahara syndrome questionnaire (refer to appendix to see the questions)A questionnaire was designed to evaluate current understanding of Ohtaharasyndrome in the medical community. The questionnaire is aimed at: generalpractioneers, nurses at special care baby units and paediatrics working on baby wards.The questionnaire was set out in a list form comprising of multiple choice questions.The linguistical language used was plain and in short form; the questionnaire wasdesigned to be completed in the least amount of time needed, and bearing in mindhow busy the participants are.MSc Medical Diagnostics Thesis 78 August, 2002
    • Usman Omar GhaniThe first three questions are set out to evaluate the understanding of what Ohtaharasyndrome is. If the participant had not heard of Ohtahra syndrome and ticked “no” inthe questionnaire, than the rest of the questionnaire will be basically guess work ratherthan a clear understanding.Question 4 assesses the knowledge of the participant on the aetiology of thissyndrome, while question 5 assess on the disorders incidence in the general public.Question 6 tries to categorize the age group which is affected for this disorder.Question 7 asks for the symptoms for this disorder and question 8 defines the mode ofdiagnoses for Ohtahara syndrome.Question 9 is designed to assess the participant’s knowledge on the management ofthis disorder, once it has been diagnosed.Question 10 is based on the epidemiology of this disorder, and assesses weather theparticipant knows of the epidemiology of this disorder.From question 11, the questions are designed for the personal opinion of theparticipant; the questions are general and broad. Can Ohtahara be prevented? It is ayes or no question.Question 13 asks the participant if they would require more knowledge on the subject,which leads onto question 14, assessing there recommendations for a need for moreresearch into this disorder.The questionnaire concludes with question 15, which summarizes the proposedproject post this thesis and asks if they would give there backing. How supporting isthe participant of any further research into Ohtahara syndrome.A letter from me was enclosed with the questionnaire to all participants (seeappendix).At the end of the questionnaire a brief description of Ohtahara syndrome is attached,to enlighten participants of the disorder.MSc Medical Diagnostics Thesis 79 August, 2002
    • Usman Omar Ghani3.4.1 General Practioneer doctorsGeneral Practioneers were selected because of there close association with the generalpopulation, as a first contact mode for health issues. During the period of gestation theGP is the first line of contact, and expectant mothers are closely monitored andassessed by the family doctor.Four surgeries were sent the questionnaire; New surgery (Chesham,Buckinghamshire); Green meadows surgery (Amersham); Flitwick Health Centre(Flitwick in Bedfordshire); and Dr. Hows surgery (Chesham in Buckinghamshire).New Surgery (Chesham)Our family doctor is based at the New Surgery, which has 6 partners in practise. Thissurgery was selected to assess information co-ordination between the partners and toevaluate the level of understanding of this disorder in the other five patners, bearing inmind three of its patients died from Ohtahara syndrome in the past five years.The questionnaires were taken by hand and given to the medical secretary, to bepassed onto the doctors, and the results to be collected by hand in a fortnight.Green meadows surgeryThis surgery was selected because of its location in Buckinghamshire, it is locatedbetween the New surgery and High Wycome hospital and is has a large number ofpartners, comprising of 8 practising general practioneers.The questionnaires were taken by hand and handed in at the surgery; the filledquestionnaires were to be collected in a fortnight.Dr. How’s SurgeryThis surgery was selected because of its historical routes in Chesham; it has been inresidence since 1952, with a second generation doctor in practise. It is a small surgerywith two partners from the same family.MSc Medical Diagnostics Thesis 80 August, 2002
    • Usman Omar GhaniThe questionnaires were taken by hand and given to the medical secretary, wasinformed the results will be sent by post.Flitwick health centreThis health centre was selected because of its rural location, in comparison to theabove surgeries. The health centre is close to the university and is easily accessible. Ithas 5 practising partners.The questionnaires were taken by hand and given to the external medical secretary,and arrangements were made to collect the results in a fortnight’s time.3.4.2 Special care baby units at High Wycome and Luton Hospital.Special care baby units form the first line of diagnostic investigations for unwell postnatal babies. Tests and investigations are carried out and the babies are continuouslymonitored for treatment. It is here were any abnormal movements or symptoms areanalysed and investigated.The special care baby unit at High wycome hospital was selected to participate in thequestionnaire because of there close involvement with our cases, and weather therewas an increased awareness at this site in comparison to the Luton Hospital site,bearing in mind the special care baby unit at High wycome had dealt with three casesof Ohtahara syndrome in the past five years. The questionnaire is aimed at the nursesat both hospitals.The questionnaires were personally handed to the clerk at reception, and arrangementswere made to collect the results in a fortnight.3.4.3 PaediatricsPaediatrics specialise in post natal infants and assess there symptoms on children’sward. They are responsible for the direction of investigation for an unwell infant, andhow quickly the symptoms are picked on, the aetiology is located that treatment maythan commence.MSc Medical Diagnostics Thesis 81 August, 2002
    • Usman Omar GhaniBoth children’s wards at High Wycome and Luton Hospital were given questionnairesfor there paediatrics to fill in.The questionnaires were handed by hand to the receptionist and self addressedenvelopes were enclosed for replying.3.4.4 Information required from the questionnaireThe questionnaire is designated to give an indication of the level of awareness ofOhtahara syndrome in the medical community, and there recommendations for afurther in-depth study on this syndrome, specifically at grass root level by generalpractioneers, nurses at special care baby units and paediatrics.Inadition comparisons will be made of the different general practioneers surgeries, inparticular at the New Surgery (were they dealt with our cases) and special care babyunits at both hospitals (High Wycome and Luton).The number of filled in questionnaires returned and by which profession will beanalysed, as will the level of awareness be compared within the medical profession.The results from the questionnaire will be analysed by comparative graphs andnumerical tables. In all there were 49 questionnaires sent.MSc Medical Diagnostics Thesis 82 August, 2002
    • Usman Omar GhaniChapter 4: Results4.1 Statement of factsDr. SawneyMy first line of investigation was with Dr. Sawney, it was the start of the thesis and Ihad an informal interview with him. I was informed, it was a difficult and raredisorder to analyse, because it was rare, there was little literature on it. Dr Sawneyinformed me he would make arrangements for me to meet Dr. McShane, from JohnRadcliff hospital, in Oxford, and I should also write to him requesting anappointment. He also suggested I get in touch with a researcher from BrunelUniversity, Dr. Alison Shaw, whom we had met before at Dr. Hearly’s geneticistclinic.Recommendations • Contact Dr. Alison Shaw. • Contact Dr. Ian McShane.Dr. Alison ShawSecond line of contact was Dr. Alison Shaw; she was researching the effects of raredisorders on ethnic minorities. I spoke to her on the telephone and explained myresearch aims, which at that time were; 1. Attempting to find the aetiology of Ohtahara syndrome. 2. Devising a diagnostic kit for detecting the disorder prior to birth. 3. Investigating to the reason why anti epileptic medication had limited effects on infants of Ohtahara syndrome.Dr. Alison Shaw was encouraged by my research and promised to do all is needed toassist me. It was suggested that I should contact Dr. Geoff Woods, of St. Jameshospital in Leeds.MSc Medical Diagnostics Thesis 83 August, 2002
    • Usman Omar GhaniRecommendations • Contact Dr. Geoff Woods.Dr. Geoff WoodsDr. Woods was a senior geneticist at St. James hospital, in Leeds. He had attained agrant from the Welcome trust, to research genetically based disorders in Pakistanifamilies.An appointment was arranged to meet Dr. Woods, in Leeds. I had a very constructiveexperience at Dr. Wood’s laboratory. I had learnt a great deal on his research aims,but there was little he could do to assist me.Dr. Woods had little knowledge of Ohtahara syndrome, the fact it was not an inheriteddisorder, he could offer me no additional information. How ever, at the conclusion ofthe meeting, Dr. Woods suggested that I contact a senior neurologist Dr. Howard atGreat Ormond street hospital, gave me the addresses of contact a family service, andan internet site that had support groups for rare metabolic disorders.Recommendations • Contact Dr. Howard. • Address of an internet site for rare metabolic disorders; NORD. • Address of “contact a family”.Dr. HowardDr. Howard is a senior consultant neurologist at Great Ormand Street London, I wrotetwice to Dr. Howard requesting a meeting and on both occasions failed to receive areply.MSc Medical Diagnostics Thesis 84 August, 2002
    • Usman Omar GhaniContact a familyContact a family is a UK charity which helps families who care for children with raredisorders, contact was made with them, and they had no families on file withOhtahara syndrome and sent me an information page on Ohtahara syndrome.Recommendations • They had no members that had been touched by the Ohtahara syndrome.4.2 Internet sitesAll relevant literature on Ohtahara syndrome had been down loaded and printed forthe literature review. Yet I lacked direct communication with Ohtahara families. Onesite suggested by Dr. Wood, was www.nord.org. It stands for National Organizationfor Rare Disorders.Entering the site gave me an opportunity to visualise many profiles of families withrare disorders. I searched through the whole site, not one profile had families that hadbeen touched by Ohtahara syndrome.I decided to make contact with as many families as possible, by emailing them andasking for there assistance in locating Ohtahara families. The replies came back inthere dozens, all touched by my personal experience. Yet one reply made a truedifference, it was from a lady from the United States of America, in California, her 4year old daughter had West Syndrome, which had evolved from Ohtahara syndrome.Debbie Spencer gave me the email address of a lady from her state, Tammie Horakwhose 5 year old grandson Tyler had Ohtahara syndrome.Recommendations • Email addresses of families touched by Ohtahara syndrome.MSc Medical Diagnostics Thesis 85 August, 2002
    • Usman Omar Ghani • The official internet site for families touched by Ohtahara syndrome, moderated by Tammie Horak.4.3 Families touched by OhtaharaTammie HorakThrough effective communication with Tammie, I was surprised to realize that,Tammie had set up a support group for Ohtahara families, which was located at:http://groups.yahoo.com/group/ohtaharasyndrome. The group had 32 members. Ibegan active participation with the group and began getting there involvement in myresearch. From the list of members, there was a lady from Great Britain, who had a 13year old child with Ohtahara syndrome, Susan Titbits.Recommendations • The email address of Susan Titbits who was in the United Kingdom.Susan TitbitsSusan Titbits had orchestrated similar support methods as Tammie in America.Through Susan I was able to locate 14 living cases of Ohtahara syndrome and 2families who had lost children to Ohtahara, in Britain, Northern Ireland and theRepublic of Ireland.Recommendations • Located the names and addresses of 14 other cases in the United Kingdom.Families touched by Ohtahara syndromeContact was made with all the families and the support network was connected withthe families around the world. In total I had located 34 cases in America, 4 inAustralia and New Zealand, 2 reported cases from the Indian sub-continent and 19cases from the United Kingdom and Ireland (including three of my children), bringingthe total to 59 families who had been touched by Ohtahara syndrome, 11 of the infantshad died leaving 48 living infants with Ohtahara syndrome, around the world.MSc Medical Diagnostics Thesis 86 August, 2002
    • Usman Omar Ghani4.4 Letters of support (refer to appendix)I began receiving letters of support from the families touched by Ohtahara syndrome,the underlying message was the same, and they needed to be heard and wantedanswers to the same questions: Why is the aetiology of Ohtahara syndrome notknown? Why does the current medication for Ohtahara syndrome have limited effect?Why are there different forms of this disorder? Some infants die within the first yearof life and others (Susan Titbits child) are a live into there teens.The more my involvement progressed with other families, the more I realised howdifficult this disorder was to understand, it was not rare to me, because it had affectednearly 60 other families around the world, each with a similar story. At this stage myquest for direction into research avenues was extensive, it seemed trying to find thereason why medication had little effect was equally as important as locating anaetiology, I therefore decided to leave all options open.4.5 Personal visitsApart from our three cases of Ohtahara syndrome, I knew little of other cases in theUnited Kingdom, yet through my contacts I was able to make three home visits tofamilies in the United Kingdom. One family whom I had spoken to on the telephoneextensively was the Adams, they lived in Southampton, and they had a 7 month olddaughter Chloe with Ohtahara syndrome. I spent an afternoon with them andquestioned the family on Chloe’s current state of health. Like many other babies withthis syndrome, Chloe was diagnosed 6 weeks after birth, after many tests had beenfruitless; an EEG was performed, which verified the presence of Ohtahara syndrome.The Adam’s family’s frustration was based on the helplessness of current medicine. Iwas able to build a strong bond with the family and was encouraged by there strengthand determination to cope with the problem.The second family I had direct contact with, lived in Northern England, in Derby. TheNewton’s had a son Jason, who was nearly a year old. Jason’s health was in a verybad way, when I arrived at there residence, his condition had detiarated and he was onMSc Medical Diagnostics Thesis 87 August, 2002
    • Usman Omar Ghanicontinuous morphine and valium. I spent an hour and a half at the family’s house.Little or no questions were asked, it was there to see how Ohtahara syndrome hadaffected Jason. The Newton’s had decided to keep Jason at home and allow him thedignity to pass away at his home. Two days later I had a phone call from Jason’smother, two hours after I departed from there house hold, Jason had gone to a morepeaceful place, where there was no pain or suffering.The third family whom I had intended to visit lived in the same Northern area as theNewton’s family, were in Burton on Trent. They were Neil and Marion Heelas, beforeI had a chance to see there beloved son, Joshua passed away. The Heelas family werevery supportive to research and offered all assistance.Other planned trips included; Northern Ireland, there are 8 living cases of Ohtaharasyndrome in close proximidity to each other; I make regular contact with them.I requested the medical notes of some of the infants mentioned above, to date I havereceived 6 complete medical files of the children with Ohtahara syndrome.4.6 Meeting with Dr. Ian McShanThe timing of the appointment with Dr. McShane could not have been better; I had agreat deal of literature and personal contact with families with Ohtahara, yet had noreal direction to take the research forth.I was joined at the meeting by Dr. Alison Shaw, at John Radcliff hospital in Oxford.The first part of the meeting evolved over my current research on Ohtahara and myaims for the research: 1. Attempting to find the aetiology of Ohtahara syndrome. 2. Devising a diagnostic kit for detecting the disorder prior to birth. 3. Investigating to the reason why anti epileptic medication had limited effects on infants of Ohtahara syndrome.I explained the reasons why these aims were important to the quest for some answersto the Ohtahara syndrome: Locating the aetiology would allow more specificMSc Medical Diagnostics Thesis 88 August, 2002
    • Usman Omar Ghanimedication to be targeted at the root cause; a diagnostic kit would allow parents ofexisting Ohtahara infants, to test for any future pregnancies to be effected by Ohtaharaand give a possible option for termination of the unborn foetus; finally, if the problemof medication was solved and the drugs were able to cross the blood brain barrier, thedisorder could be better controlled and managed.The response from Dr. McShane was less encouraging, he systematically locatedflaws in all three research avenues: there are no current investigating tools to locatethe aetiology, each case of Ohtahara could have a different aetiology to the next, thetechnology has not yet been set in place for such detailed investigations; a diagnostickit was impossible at this stage, because Ohtahara syndrome is diagnosed by EEG’sand an EEG cannot be performed on unborn foetus; the medication problem wasbeyond research because drug companies do not test medication on young infants,only on animals and there were too many ethical questions involved.However, Dr. McShane emphasised that all three research avenues were plausible inthe future, when technology was in place and at this stage they were aspirations. Iexplained that I needed one avenue of research to take this MSc project forward ontoa bigger PhD project. Than Dr. McShane suggested an option, which wouldcompletely change the focus of the project.Recommendations from Dr. McShane.Dr. McShane explained that many rare disorders have the same problem, in that theyoccur in frequently at different parts of the world and the epidemiology, incidence anddistribution in the population are not collectively noted. What is required for Ohtaharasyndrome is a study covering the demographic and epidemiological overview ofOhtahara syndrome, its incidence, distribution in the population, and possible causes,together with a discussion of its social aspects and the presentation of a database ofOhtahara cases. Such an overview is necessary as a prerequisite for any futureresearch into Otahara syndrome, its management and antenatal diagnosticpossibilities. Currently, there is no such overview and no existing database onaffected children.MSc Medical Diagnostics Thesis 89 August, 2002
    • Usman Omar Ghani4.7 Contacting Dr. OhtaharaDr. Ohtahara was the person responsible for discovering and categorising thedisorder, to approach Dr. Ohtahara and expect a response back was an aspiration. Thisbecame reality when he replied back.Subsequent weeks resulted in building a positive reportage with Dr. Ohtahara, itappeared he had retired from the chair of Tokyo research council and the pace of lifehad also slowed down. He was however, impressed by my determination to researchOhtahara syndrome and gave a supporting letter to Dr. Woodman.I informed Dr. Ohtahara of my research aims, which had included the previous three: 1. Attempting to find the aetiology of Ohtahara syndrome. 2. Devising a diagnostic kit for detecting the disorder prior to birth. 3. Investigating to the reason why anti epileptic medication had limited effects on infants of Ohtahara syndrome. 4. Study covering the demographic and epidemiological overview of Ohtahara syndrome, its incidence, distribution in the population, and possible causes, together with a discussion of its social aspects and the presentation of a database of Ohtahara cases.Recommendations from Dr. OhtaharaI than asked for Dr. Ohtahara’s suggestions to the best line of research, aiming tomake sure Dr. Ohtahara’s thoughts tally with Dr. McShane’s. The reply from Dr.Ohtahara confirmed Dr. Mcshane’s recommendations and option 4 became the basesfor the research.MSc Medical Diagnostics Thesis 90 August, 2002
    • Usman Omar Ghani4.9 Discussion on results4.9.1 Opinion formersMedical professionals associated with Ohtahara syndrome were selected andinterviewed on there knowledge and understanding of this disorder. Dr. Sawney wasthe first line of contact, his knowledge and understanding of Ohtahara syndrome wasfrom case histories of families touched by Ohtahara syndrome. Dr. Sawney had firsthand experience with our three encounters with this syndrome, therefore made him anideal opinion former. It was Dr. Sawney’s initial recommendations to pursue Dr.Alison Shaw and Dr. Ian McShane (infants with neurological problems were referredfor consultation and further investigation to Dr. McShane, who is a senior neurologist)for further knowledge on this disorder.Communication with Dr. Alison Shaw centred on my search for a specific direction ofresearch; the three initial lines of research were presented to Dr. Shaw (refer toappendix): • Attempting to find the aetiology of Ohtahara syndrome. • Devising a diagnostic kit for detecting the disorder prior to birth. • Investigating to the reason why anti epileptic medication had limited effects on infants of Ohtahara syndrome.Dr. Alison Shaw did not have the clinical and technical expertise to endorse thefeasibility of these options, her current understanding of this syndrome centred on thelevel of involvement she had with our experience of this syndrome, her personalresearch into rare disorders effecting ethnic minorities tallied with our encounter withthis disorder. Dr. Shaws recommendation was to contact a senior geneticist Dr. GeoffWoods, of St. James hospital in Leeds.Dr. Geoff Woods’s research centred on the ethnicity, geographical and regionalpatterns to do with rare inherited genetical disorders in ethnic populations.Unfortunately Ohtahara syndrome was not on the list of rare genetic disorders, thatDr. Woods was researching. Dr. Woods reasoning was that Ohtahara syndrome is notMSc Medical Diagnostics Thesis 91 August, 2002
    • Usman Omar Ghanibelieved to be genetic and therefore did not fit in his research aims. I used a counterargument on my personal experience and suggested there could be no other medicalreason for Ohtahara syndrome repeating on three consecutive pregnancies, other thanthe fact it was inherited. Dr. Woods accepted my personal opinion, but on aprofessional capacity could not be accepted with out medical research proof. Dr.Woods suggested if it can be proved that Ohtahara syndrome is inherited, than hewould be more than happy to include this disorder into his research. Dr. Wood’ssuggested that I contact Dr. Howard.Dr. Howard is a senior neurologist at Great Ormond street hospital, in London. It isunfortunate that I received no reply from Dr. Howard’s office, her expertise andknowledge on neurological disorders effecting infants would have been beneficial formy line of research.Dr. Ian McShane is an experienced paediatric neurologist at John Radcliff hospital, inOxford. He had personal contact with our cases of Ohtahara syndrome and was highlyrecommended by other opinion formers (Dr. Sawney and Dr. Alison Shaw), Dr.McShane’s knowledge and understanding of Ohtahara syndrome far exceeded otheropinion formers I had contact with (with the exception of Dr. Ohtahara himself).Dr. McShane had the clinical and technical knowledge to advice me that my threeoriginal aims were feasible and compliable but in appropriate to implement, reasonbeing given was the lack of technology and clinical expertise in this specific field. Dr.McShane argued that any specific study should have clear aims and objectives andthose aims should be viable in accordance with current technology, and if I wasserious on a study for this disorder, than I needed to construct a study covering thedemographic and epidemiological overview of Ohtahara syndrome, its incidence,distribution in the population, and possible causes, together with a discussion of itssocial aspects and the presentation of a database of Ohtahara cases.Dr. McShane’s recommendations slightly disillusioned me, I wanted direct researchinto the aetiology and prevention of Ohtahara syndrome and this was pointed out toMSc Medical Diagnostics Thesis 92 August, 2002
    • Usman Omar GhaniDr. McShane and I was informed that a study of this kind was needed as a prequel forfurther technical studies to come forth from this research, and as to date there hasbeen research orchestrated around the world, on specific cases, no collective case datais available and more research is required to understand this syndrome. From thismeeting I had gained a clear direction for the type of research needed for Ohtaharasyndrome.It was in 1978 that the syndrome known as early infantile epileptic encephalopathy,(the term ‘Epileptic Encephalopathy’ (EE) refers to a heterogenous group ofconditions in which even in absence of progressive metabolic and/or structural brainabnormality-ties, the extremely abnormal brain electrical activity may not only be thecause of seizures, but also interfere with cognitive functions, leading to an arrest orregression in behaviour, the disorders sharing these characteristics, and thus includedin this group are, early myoclonic encephalopathy (EME), and early infantile epilepticencephalo-pathy), was given the name of Ohtahara syndrome.Dr. Ohtahara had successfully classified this syndrome as a form of epilepticencephalopathy. It was an aspiration to have any form of contact with Dr. Ohtahara,which became reality when Dr. Ohtahara responded to my letters. If any individualhad knowledge and understanding of this disorder, it was Dr. Ohtahara. It must havebeen my personal encounters with this syndrome that gave me an edge over otherunsuccessful attempts by individuals to make contact with Dr. Ohtahara. I needed togain recommendations from Dr. Ohtahara on his thoughts on future research, beforeDr. Ohtahara could give me his recommendations needed to know my academic andscientific potentials, which I gave to him in subsequent email exchanges (refer toappendix).Dr. Ohtahara was informed of my 4 research aims (three initial ones and the fourthsuggested by Dr. Ian McShane) and his recommendation was asked for the mostrealistic option of research. Dr. Ohtahara confirmed Dr. McShanes suggested optionand sent a letter of support to Dr. Anthony Woodman (refer to appendix).MSc Medical Diagnostics Thesis 93 August, 2002
    • Usman Omar GhaniDr. Ohtahara’s letter to Dr. Woodman affirms that there are no reported cases ofinherited form of Ohtahara syndrome. Yet the evidential formation of our threesiblings having Ohtahara syndrome gives indication that genetical inheritance playeda part in our family. It is important to high light this point that any future researchneeds clarification that this syndrome can be inherited.4.9.2 Families touched by Ohtahara syndromeEvery family that had been touched by Ohtahara syndrome, had there own personalknowledge and understanding of this syndrome. From the personal visits and emailcommunications with these families, it was evidential that the diagnosis of thissyndrome was in the majority of cases delayed till the 6th week of birth. A patternemerged from all the cases I had contact with that initial investigation were aimed atblood, CSF and urine sample analysis, the results of each came back normal. Theusage of the EEG formed the latter part of investigations. In retrospect the EEG is lesspainful and less intrusive than other investigatory methods (blood test) and should beused at an earlier stage in investigations.Specifically in our first encounter with Ohtahara syndrome, the time span forconformational diagnoses of Ohtahara syndrome took 6 weeks. Our child had toendure countless painful intrusive investigations, which proved fruitless. It isimportant to point out the need for earlier diagnostic usage of the EEG, weresymptoms indicate a neurological problem. • Early diagnosis needed using the EEG.The second message that was portrayed by these families was the lack of informationon this syndrome. After a diagnosis was made no clear relay of information wasavailable, this was indicated by the lack of knowledge by the medical community(refer to questionnaire results discussion). • There is a lack of information available on Ohtahara syndrome.MSc Medical Diagnostics Thesis 94 August, 2002
    • Usman Omar GhaniThe third message orchestrated from the families was the difficulty in managing andcontrolling the syndrome. The infants are continuously tried on different anticonvulsion drugs, with little or no success. The quality of life for these infants is poorand manageability is made difficult with the poor control of seizures and the adverseside effects of treatment. Many infants developed respiratory and gastrologicalproblems, and systematic all juggling of different anti convulsion drugs wasadministered to have any impact on the seizures. • The difficulty in controlling and managing the syndrome.Contact with other families had also contradicted an opinion that was given by Dr.Sawney, that Ohtahara infant’s life expectancy is limited to one year. This proved tobe correct in our own encounters with the syndrome. Yet there are living Ohtaharachildren who have reached the age of 15 years (Susan Titbit’s child) and many of thefamilies on the Ohtahara web site have infants who have bypassed the one yearexpectancy. It is therefore important to point out that there is no specific ageexpectancy for Ohtahara babies, it is evidential that many die at an early stage in life,yet equally important there are living testimonial Ohtahara infants growing into thereteens. Unfortunately these infants are severely handicapped and require around theclock nursing. • There is no set life expectancy for Ohtahara infants.The families who had been touched by Ohtahara syndrome are residing all over theglobe. From email communication with families living in the United State’s ofAmerica, I was able to have an insight into there level of medical assistance from thecountries health service. The families had to rely immensely on self finance andhealth insurance to make medical payments. Often anti convulsion drugs werepurchased from different medical institutions. It was noticed (on the internet site) thatthere was a high level of interactive communication between the families in Americaon the best place to purchase certain medicine. In comparison the families touched byOhtahara syndrome, that lived in the United Kingdom had the need for medicalservice paid for by the National Health Service. This meant the parents had less of aMSc Medical Diagnostics Thesis 95 August, 2002
    • Usman Omar Ghanifinancial worry for there infants, it is important to point out that the point of deliveryfree medical service available in the United Kingdom allows parents to manage therelives with out the worry of financial contributions to treatment. • Financial contribution required by parents of ohtahara infants residing in America, while there counter parts had complete free point of care health service.The families of Ohtahara infants had built up a frame work of moral support to eachother; the internet site developed by Tammie Horak had given the first platform forcollective gathering of families touched by this disorder. There were members of theinternet Ohtahara web site whom had lost infants to this disease and they remained onsite to give continuous support to others. I informed my family contacts of my desireto do a more in-depth study of this disorder, and supporting letters came from manyfamilies (refer to appendix). • The underlying message was the same in each letter; the parents own personal experience, the feeling of helplessness, there desire for answers and above all there enthusiastic support for such a study.4.9.3 Internet communicationMy research relied heavily on the usage of the internet. I was able to attain themajority of relevant literature on this disorder, from the web. Most of all it gave me anopportunity to make contact with opinion formers and families touched by thisdisorder. Continuous email exchange on a daily basis gave me an insight into manyfamilies’ lives, which were battling with this disorder. Often specific questions wereanswered quickly and this made information gathering easier and faster to manage.There is no better way of understanding how a syndrome affects the families, withoutdirect contact with those families. The majority of families touched by this syndromeresided abroad; emailing provided the fastest and most efficient way of makingcontact with them.MSc Medical Diagnostics Thesis 96 August, 2002
    • Usman Omar Ghani • Internet provided a faster mode of communication with my contacts.4.9.4 The questionnaire (refer to appendix)There were (49) questionnaires sent to medical professionals and (35) questionnaireswere received back. All the received questionnaires were correctly formatted and theresults were noted by configuration of the correct ticked answers, to the multiplequestions, which were placed in results tables.The results of the questionnaire were in co-operated into summary tables, showing thenumber of questions and the number of correct answers given. (Please refer to theappendix for reference to the type of questions in the questionnaire). The informationfrom the summary tables is transferred onto bar charts, which show correlatedcomparison of correct and incorrect answers.Comparative assessments were made on the different surgeries, and the nurses andpaediatrics at High Wycome and Luton/Dunstable hospitals.The last three questions on the questionnaire (refer to appendix), in co-operated theideology of the participant in the need for future research in Ohtahara syndrome. Theresults of which are displayed on bar charts.The questionnaire was designed to evaluate current understanding of Ohtaharasyndrome in the medical community. Particular comparisons were made between twolocations High Wycome and Luton/Dunstable hospital staff. General Practioneerspractising in four surgeries (New surgery, Green Meadow surgery, Dr. How’s surgeryand the Flitwick health care centre) were asked to fill in the questionnaire and theresults compared. The results from Questions 1-12 are evaluated first, with the resultsfrom question 13-15 analysed separately. • Results from the New Surgery compared with internal partners and with the other three surgeries.MSc Medical Diagnostics Thesis 97 August, 2002
    • Usman Omar Ghani • Results from the participants at both locations (High Wycome and Luton/Dunstable hospital) compared.Number of questionnaires sent and received (refer to table 10 and figure 19).There were in total 49 questionnaires sent and out of which 35 were received back,fully completed. The most number of questionnaires sent were to Luton/Dunstablespecial care baby unit (10) of which 6 were returned completed. The least number ofquestionnaires sent were to Dr. How’s surgery (2), of which both were returned backfully completed.Table 10, showing the number of questionnaires sent and received, the summaryinformation is displayed in figure 19. Table 10, Number of questionnaires sent and received. Sent Received New surgery (Chesham) 6 5 Green meadows surgery (Chesham) 8 6 Dr. How’s Surgery (Chesham) 2 2 Flitwick health centre (Flitwick) 6 5 Special care baby unit (High Wycome) 7 4 Special care baby unit (Luton and Dunstable hospital) 10 6 Paediatrics at High Wycome Hospital. 4 3 Paediatrics at Luton and Dunstable hospital. 6 4 Total 49 35MSc Medical Diagnostics Thesis 98 August, 2002
    • Usman Omar Ghani Numbers of questionnaires sent and received 12 10 8 Sent 6 Receivied 4 2 0 New surgery Green meadows Dr. How’s Flitwick health Special care Special care Paediatrics at Paediatrics at (Chesham) surgery Surgery centre (Flitwick) baby unit (High baby unit (Luton High Wycome Luton and (Chesham) (Chesham) Wycome) and Dunstable Hospital. Dunstable hospital) hospital Questionnaires destinationFig. 19 Bar chart showing the number of questionnaires sent and received.As figure 19 illustrates the only location were all the questionnaires were sent backwas Dr. How’s surgery, this could be explained by the fact the practise is small (2partners) in size and more attention can be given to external issues. Other largerlocations (SCBU and paediatrics at children’s wards) returned just over half of thequestionnaires completed. This could be due to the work load of the participants andthe availability of time, as children’s wards are generally busy. • There were 49 questionnaires sent and 35 were received back completed. • Dr. How’s surgery was the only surgery to return all the questionnaires.New Surgery Chesham (refer to table 11 and figure 20)The New Surgery has had first hand experience with Ohtahara syndrome; they wereinvolved in our infant’s management of the syndrome. It was important to understandhow much knowledge they had of this syndrome and the degree of informationinteraction between the partners (our family general practioneer comprised one of thesix partners at the surgery).MSc Medical Diagnostics Thesis 99 August, 2002
    • Usman Omar GhaniTable 11 Summarises the number of questions asked and answered correctlyfrom the New Surgery. The results are shown in a bar chart in figure 20.New surgeryNumber of questions asked 1 2 3 4 5 6 7 8 9 10 11 12Number of correct answers 5 5 3 3 2 5 5 5 4 2 3 5 New surgery results of questionnaire 6 Number of correct answers 5 4 3 Series1 2 1 0 1 2 3 4 5 6 7 8 9 10 11 12 Number of questionsFig. 20 Bar chart showing the number of questions asked and answered correctlyfrom the New Surgery.As figure 20 illustrates the doctors were correct in identifying the syndrome, both thefirst two questions were answered correctly. Questions 6, 7, 8 and 12 were alsoanswered correctly. Indicating that they were aware of the age group, the symptoms,mode of diagnoses and the prognoses of the disorder. Questions 5 and 10 were theleast answered correctly, suggesting they were not aware of the incidence and theepidemiology of the syndrome. Over all the results of the questionnaire illustrate thatthe partners are all aware of the syndrome and there is a good degree of crosscommunication between the partners. • The New Surgery displayed a good understanding of Ohtahara syndrome.MSc Medical Diagnostics Thesis 100 August, 2002
    • Usman Omar Ghani • The results reflected good knowledge of the syndrome by all the partners at the surgery.Green Meadow’s Surgery (refers to table 12 and figure 21).Less than half the partners at the practice were correct in identifying the syndrome(3), none of the participants had the correct answer for question 4 (what causes thesyndrome?) and there was a similar pattern for the remaining questions.Table 12 Number of questions asked and answered correctly from GreenMeadows surgery. Results are displayed in a bar chart in figure 21.Green meadow’s surgeryNumber of questions 1 2 3 4 5 6 7 8 9 10 11 12Number of correct answers 3 2 1 0 2 2 3 3 4 1 2 2 Green meadow surgery 4.5 Number of correct answers 4 3.5 3 2.5 Series1 2 1.5 1 0.5 0 1 2 3 4 5 6 7 8 9 10 11 12 Number of questionsFig. 21 Bar chart showing the number of questions asked and answered correctlyfrom Green Meadows surgery.As figure 21 indicates, question 9 (treatment of Ohtahara syndrome) was answeredmost correctly by the participants. This result may have been expected due to thegeneral practioneer’s extensive knowledge on drug treatment for diseases.MSc Medical Diagnostics Thesis 101 August, 2002
    • Usman Omar Ghani • Less than 50% of the participants were correct in there assessment of the syndrome.Dr. How’s Surgery (refers to table 13 and figure 22).The results from the questionnaire illustrated that one of the two partners hadknowledge of the syndrome.Table 13 Number of questions asked and answered correctly from Dr. How’ssurgery. Results are displayed in figure 22. Dr. How’s surgery Number of questions 1 2 3 4 5 6 7 8 9 10 11 12 Number of correct answer 1 1 1 0 1 2 1 0 1 0 0 0 Dr. Hows surgery 2.5 Number of correct answers 2 1.5 Dr. Hows surgery 1 0.5 0 1 2 3 4 5 6 7 8 9 10 11 12 Number of questionsFig. 22 Bar chart showing the number of questions asked and answered correctlyfrom Dr How’s Surgery. As figure 22 indicates questions 4, 8, and 10-12 were answered incorrectly.Illustrating the participants had no knowledge on the cause, diagnoses, epidemiology,prevention and prognoses of this disorder. • Knowledge on Ohatahara syndrome was limited to one partner at the surgery.MSc Medical Diagnostics Thesis 102 August, 2002
    • Usman Omar GhaniFlitwick health care centre (refer to table 14 and figure 23)The results from the questionnaire illustrated a similar pattern to the other surgeries(with the exception of the New surgery), in that less than half of the partners (2) hadever heard of this syndrome and that number repeated itself through out the otherquestions. Questions 8 and 11 were both answered incorrectly by all the participants,indicating a lack of knowledge in the diagnoses and prevention of the syndrome.Table 14 Number of questions asked and answered correctly from the Flitwickhealth care centre. Table summary is shown in figure 23.Flitwick health care centreNumber of questions asked 1 2 3 4 5 6 7 8 9 10 11 12Number of questions answered 2 2 1 1 1 2 1 0 1 1 0 1 Flitwick health care centre 2.5 number of correct answers 2 1.5 Number of questions answered 1 0.5 0 1 2 3 4 5 6 7 8 9 10 11 12 Number of questions askedFig. 23 Bar chart showing the number of questions asked and answered correctlyfrom the Flitwick health care centre. • Results indicated a lack of understanding about Ohtahara syndrome, with less than 50% of the participants ever hearing of the disorder.MSc Medical Diagnostics Thesis 103 August, 2002
    • Usman Omar GhaniComparisons of results from all four surgeries (refer to table 15 and figure 24).As figure 24 illustrates the New Surgery had most knowledge and understanding ofOhtahara syndrome. The participants of the surgery had the most correct answers, thiscould be attributed to there contact with three cases of Ohtahara syndrome, in the pastfive years. The remaining three surgeries had similar pattern of results, thereknowledge of the syndrome was limited, and this can be due to the lack of directcontact with families affected by this syndrome. It should be clarified that the GreenMeadow’s surgery had the most questionnaires returned (6) and Dr. How’s surgerythe least (2), reflecting on the size of each respected surgery.Table 15 Comparison of questionnaire results from the four surgeriesparticipating in the questionnaire. Results are shown in bar chart form in figure24. Name of surgery Number of questions Correct answers: 1 2 3 4 5 6 7 8 9 10 11 12 New Surgery 5 5 3 3 2 5 5 5 4 2 3 5 Green meadows surgery 3 2 1 0 2 2 3 3 4 1 2 2 Dr. Hows surgery 1 1 1 0 1 2 1 0 1 0 0 0 Flitwick health centre 2 2 1 1 1 2 1 0 1 1 0 1 Comparison of questionnaire results from general practioneers 6 Number of correct 5 New Surgery 4 answers 3 Green meadows surgery 2 Dr. Hows surgery 1 0 Flitwick health centre 1 2 3 4 5 6 7 8 9 10 11 12 Number of questionsFig. 24 Bar chart showing the number of questions asked and answered correctlyfrom the four medical surgeries participating in the questionnaire.MSc Medical Diagnostics Thesis 104 August, 2002
    • Usman Omar Ghani • The New Surgery had a better understanding of Ohtahara syndrome, than the other three surgeries.Comparison of results from the special care baby units (SCBU) of High Wycomeand Luton/Dunstable hospitals (refers to table 16 and figure 25).I had anticipated that there should have been more awareness at the SCBU at HighWycome hospital, rather than its counter part in Luton/Dunstable hospital. Reasonbeing that the unit at High Wycome hospital had treated three cases of Ohtaharasyndrome in the past five years. As figure 25 illustrates there was more awareness ofthis disorder at the High Wycome SCBU, the participants correctly answered morequestions than there counter parts in Luton/Dunstable.Table 16 Number of questions asked and answered correctly from the nurses atspecial care baby units, at High Wycome and Luton/Dunstable hospitals. Referto figure 25 for comparison of results in bar chart formation.Special care baby unit (H. 1 2 3 4 5 6 7 8 9 10 11 12Wycome)Number of questionsaskedNumber of correct 3 2 3 3 2 3 4 3 2 4 3 3answers, High WycomeSCBUSpecial care baby unit(Luton&Dunstable)Number of correct 2 1 2 2 1 1 1 0 2 1 0 1answers, Luton &Dunstable SCBUMSc Medical Diagnostics Thesis 105 August, 2002
    • Usman Omar Ghani Special care baby unit (SCBU) questionnaire results 5 Number of correct 4 Number of correct answers, High Wycome answers 3 SCBU 2 Number of correct answers, Luton & 1 Dunstable SCBU 0 1 2 3 4 5 6 7 8 9 10 11 12 13 Number of questions askedFig. 25 Comparison of SCBU questionnaire results for High Wycome and Luton& Dunstable hospitals.There was particularly high scoring in question 7 and 10, from the SCBU at HighWycome hospital. Indicating they had a good level of awareness for the symptoms ofOhtahara syndrome. This result is encouraging because the nursing staffs at SCBU isthe “eyes and ears” for assessing the sick infant, any abnormal signs of an illness canbe picked up and noted by the staff. This is very important for early symptomaticdetection and iniation of further investigations. A good knowledge of theepidemiology (that it is not known for Ohtahara syndrome) is illustrated by the levelof correct answers for question 10.As figure 25 illustrates staff at SCBU at Luton/Dunstable hospital, had a lowerunderstanding of Ohtahara syndrome than there counter parts, this could be due to thelack of direct involvement with families touched by this disorder. Particularly therewas a lack of understanding for the diagnosis of this syndrome (question8) and a lowunderstanding of the incidence, age group, symptoms, epidemiology and prognosis ofthis syndrome (questions 5-8 and 10-12).It should be noted that the SCBU at Luton/Dunstable hospital had returned morequestionnaires (6) than there counter part in High Wycome (4).MSc Medical Diagnostics Thesis 106 August, 2002
    • Usman Omar Ghani • Staff at SCBU in High Wycome hospital displayed greater knowledge and understanding of Ohtahara syndrome than there counter parts at Luton/Dunstable hospital, especially in the symptomatic detection of the syndrome.Comparisons of results from the paediatrics at High Wycome andLuton/Dunstable hospitals (refer to table 17 and figure 26).Paediatrics work closely with new born babies at SCBU and children’s wards. It isexpected of them to display a good level of understanding for symptomatic detectionof unwell new born babies.As figure 26 illustrates there is a good understanding of Ohtahara syndrome inpaediatrics working at High Wycome hospital. There was a strong understanding ofthe fact they had heard of this syndrome, its other classification name, the cause,incidence, symptoms and epidemiology of the syndrome (questions 1, 3, 4, 6, 7 and10).In comparison paediatrics at Luton/Dunstable hospital displayed a lowerunderstanding of this syndrome; particularly there were no correct answers for theprevention of the syndrome (question 11).Table 17 Number of questions asked and answered correctly from paediatrics atHigh Wycome and Luton/Dunstable hospitals. Refer to bar chart figure 26,showing comparison of results from both places.Paediatrics at children’s 1 2 3 4 5 6 7 8 9 10 11 12wardNumber of questionsaskedPaediatrics at Luton & 2 2 1 2 1 2 1 1 1 2 0 1Dunstable hospitalPaediatrics at High 3 2 3 3 2 3 3 2 2 3 2 2Wycome hospitalMSc Medical Diagnostics Thesis 107 August, 2002
    • Usman Omar Ghani Paediatrics at High Wycome and Luton/Dunstable hospital 3.5 Number of correct 3 2.5 Paediatrics at Luton & answers 2 Dunstable hospital 1.5 Paediatrics at High 1 Wycome hospital 0.5 0 1 2 3 4 5 6 7 8 9 10 11 12 Number of questions askedFig. 26 Comparison of results from paediatrics at High Wycome andLuton/Dunstable hospitals.It should be noted that there were more questionnaires received from paediatrics atLuton/Dunstable hospital (4) than there counter parts at High Wycome hospital (3). • Paediatrics at high Wycome hospital displayed a better knowledge and understanding of Ohtahara syndrome.Comparisons of results from all sources (refer to table 18 and figure 27).The over all results from the questionnaire (questions 1-12) have been summarised(refer to table 18) and in cooperated onto a bar chart (refer to figure 27). The over allpicture shows that the new Surgery and staff at High Wycome hospital had a betterunderstanding of Ohtahara syndrome than there counter parts. It can be argued thatthe participants from these locations had direct involvement with three known casesof Ohtahara syndrome (our family cases); this gave them additional advantage overthe other participants.MSc Medical Diagnostics Thesis 108 August, 2002
    • Usman Omar GhaniTable 18 Summary tables showing the number of questions asked and answeredcorrectly from all the participants in the research study. Refer to figure 27 forcomparison of results. Number of questions Correct answers: 1 2 3 4 5 6 7 8 9 10 11 12 New Surgery 5 5 3 3 2 5 5 5 4 2 3 5 Green meadows surgery 3 2 1 0 2 2 3 3 4 1 2 2 Dr. How’s surgery 1 1 1 0 1 2 1 0 1 0 0 0 Flitwick health centre 2 2 1 1 1 2 1 0 1 1 0 1 Paediatrics at Luton & Dunstable hospital 2 2 1 2 1 2 1 1 1 2 0 1 Paediatrics at High Wycome hospital 3 2 3 3 2 3 3 2 2 3 2 2 Number of correct 3 2 3 3 2 3 4 3 2 4 3 3 answers, High Wycome SCBU Number of correct 2 1 2 2 1 1 1 0 2 1 0 1 answers, Luton & Dunstable SCBU Results 6 New Surgery 5 Green meadows surgery Number of correct answers 4 Dr. Hows surgery 3 Flitwick health centre Paediatrics at Luton & Dunstable 2 hospital Paediatrics at High Wycome 1 hospital Number of correct answers, High 0 Wycome SCBU 1 2 3 4 5 6 7 8 9 10 11 12 Number of correct answers, Luton & Dunstable SCBU Number of questions askedFig. 27 Comparison of results received from all the participants in the study.MSc Medical Diagnostics Thesis 109 August, 2002
    • Usman Omar GhaniIt must also be pointed out that no prior knowledge was known on my part that if thestaff at Luton/Dunstable hospital and the other surgeries had any form of contact withfamiles touched by Ohtahara syndrome. • Staff at High Wycome hospital and the New Surgery displayed better knowledge of Ohtahara syndrome than there counter parts.Results for questionnaire numbers (13-15) from all the participants in the study.(Refer table 19 and figure 28 for comparative results on a bar chart).These three questions (13-15 refer to appendix) were designed to evaluate if theparticipant requires more information on the syndrome, there recommendations formore research and out lines the aim of a broad overview of the syndrome and asks ifthey would support such a study.Table 19 showing the results for questionnaire numbers (13-15) from all theparticipants in the study. Refer to figure 28 for comparative results on a barchart.Refer to appendix question 13 question 14 question 15For the questions. yes no yes no yes noNew Surgery 5 0 5 0 5 0Green meadows 6 0 6 0 6 0surgeryDr. Hows 2 0 1 1 2 0surgeryFlitwick health 5 0 5 1 5 0centrePaediatrics at 4 0 4 0 4 0Luton &DunstablehospitalMSc Medical Diagnostics Thesis 110 August, 2002
    • Usman Omar GhaniPaediatrics at 6 0 6 0 6 0High WycomehospitalHigh Wycome 3 0 3 0 3 0SCBULuton/Dunstable 4 0 2 2 4 0SCBU. participants New Surgery 7 Green meadows 6 surgery number of participants 5 Dr. Hows surgery 4 Flitwick health 3 centre Paediatrics at 2 Luton & Dunstable hospital 1 Paediatrics at High Wycome hospital 0 yes no yes no yes no High Wycome SCBU question question question 13 14 15 Luton/Dunstable Yes or no SCBU.Fig. 28 Comparison of results received from all the participants in the study.MSc Medical Diagnostics Thesis 111 August, 2002
    • Usman Omar GhaniAs figure 28 illustrates there is an over whelming agreement and support for futureresearch on this syndrome. There were only two declines for question 14 (the need formore research), they were from the Flitwick health centre and Dr. How surgery. Atthe end of the questionnaire the participants from both sites gave reason to why theyfelt more research was not needed, the message from both was that it is a very raresyndrome and it would be very difficult to find participants to take part in any study.It can be argued that the research on this thesis has demonstrated that Ohtaharasyndrome may be rare and little is know about it, but there is a community of over 40families in the world who are trying to manage there lives around this syndrome andwho are more than happy to participate in any research study.Other rare disorders, for example cystic fibrosis (Cystic fibrosis (CF) is an inheriteddisorder that affects several "outwardly secreting" (exocrine) glands, includingrespiratory, pancreatic, salivary, and sweat glands. CF predominately affectsCaucasians from northern Europe and is considered very rare in other populations)had similar problems as Ohtahara syndrome in that, there were late diagnosis andmanagement problems of the disease (refer to appendix 5 page 124). Initial researchconcentrated on accumulating information on the incidence, epidemiology and settingup a data base of known cases. Subsequent research used the frame work ofinformation on the data base and technical coherent studies materialized. Resulting inmore research into the aetiology and treatment of CF.4.9.5 SummaryThe questionnaire has illustrated the divide in knowledge of Ohtahara syndrome,between different locations. As pointed out earlier this may have been due to theredirect contact with families touched by Ohtahara syndrome.It is important to out line that staff at postnatal/ SCBU and paediatrics should have aninclination to observe and detect specific symptoms which could indicate a moreserious syndrome. The early diagnoses and detection of any serious syndrome ishelpful in the management and treatment of the disorder.MSc Medical Diagnostics Thesis 112 August, 2002
    • Usman Omar GhaniFrom the personal contact with families touched by Ohtahara syndrome, the underlying message is the need for faster diagnoses, too much time is by passed by causingthe new born unnecessary intrusive tests, there is only one clear indicator forneurological abnormalities; that is the EEG, it is relatively painless and is the onlydiagnostic tool for Ohtahara syndrome. It is therefore recommended that it should beused at an early stage in neurological investigations by medical professionals.Too often anti convulsion therapy is limited to widely know drugs for epilepsy(phenol barbiton and clobazam) and many families reported the lack of desire fromthere clinicians to try other anti convulsion drugs. It is recommended that theneurologist should aim to try other medication (vigabatrin) and aim to improve thequality of life as much as possible.4.9.6 ConclusionBefore commencing on this project my knowledge of Ohtahara syndrome tallied withany informal person reading this thesis; that it is a rare syndrome and little is knownabout it. Yet my aims and objectives have taken me to meet opinion formers andfamilies touched by this disorder, I gained an ocean of knowledge from these people.It is a syndrome that effects human beings who cannot talk, cannot express there levelof pain, are to the mercy of others, these beings are new born babies who enter thisworld, bringing with them a syndrome that has no cure and no form of treatment.From day one of there lives they experience nothing more than pain, distress anddiscomfort. For many victims of Ohtahara syndrome leave this world with littlememory of joy, just pain and distress.What does current conventional medicine do for the Ohtahara babies? There seizuresare difficult to control and there quality of life is poor. By attempting to control theseizure holds back the syndrome, but it is not taken away, the underlying problemremains. The question should be asked; does modern day medicine increase the lengthof life and therefore prolong the suffering of the victim with the fatal condition?Would Ohtahara babies live as long as they do if it were not for modern medicine?What would happen if things were left to Mother Nature? These are all very difficultMSc Medical Diagnostics Thesis 113 August, 2002
    • Usman Omar Ghaniquestions and personal life experience dictates in the reply given. My opinion is thatevery life has a right to existence and every opportunity should be taken to make thelife as comfortable as possible. Therefore the following recommendations should beconsidered.4.9.7 Recommendations • Early detection of the syndrome is advisable, the sooner treatment can commence the easier it is to manage the syndrome. • Staff working with new born babies should be more vigilant in there monitoring of the babies, in relation to symptomatic detection. • More information should be given to parents of Ohtahara syndrome, specifically clinicians should advocate using the internet and search some family support groups, as this will give the parents a chance to have direct contact with other families touched by this syndrome. • Once the syndrome has been diagnosed, all efforts should be advocated at making the quality of life as good as possible. • Ohtahara syndrome is rare, yet this study has demonstrated that there are over 6o families touched by this disorder, to date there has been no collective data base and many cases go unreported. It is equally important to point out in the third world; many infants go undiagnosed, untreated and pass away with out any form of documentation. It is therefore recommended that research from paediatric hospitals in these countries be commenced and a data base set up to give a more accurate number of Ohtahara infants in the world. • In the opinion of Dr Ohtahara there is no proven link in genetic inheritance with this disorder (refer to appendix 1), I would argue that due to the repetition of this syndrome in three consecutive siblings, in our family, there leaves little doubt in the presence of a genetic link. In comparison Dr Kamal Sawney is ofMSc Medical Diagnostics Thesis 114 August, 2002
    • Usman Omar Ghani the view that this disorder maybe autosomal recessive in some cases (refer to appendix 2), this view contradicts of that held by Dr Ohtahara. There is also mounting evidence that a family with one affected child and consanguinity can give gene mapping information. A family with 3 affected children and also consanguineous can give an extensive amount of information, enough to map the gene. Consanguineous families are invaluable in the search for genes, can help find the gene, and help the family. I therefore recommend that future research is aimed at locating the effected gene in Ohtahara syndrome. • Conclusive recommendationThe results from the questionnaire and the recommendations of the opinion formers(refer to letters in appendix) illustrate the need for an in-depth research project set upto provide a demographic and epidemiological overview of Ohtahara syndrome,together with a discussion of its social aspects and the presentation of Ohtahara database cases. This recommendation is backed up by Dr. Ohtahara himself (refer toappendix), Dr. Ian McShane, Dr. Kamal Sawney, Dr. Geoff Woods, Dr. Alison Shawand supporting letters from families touched by Ohtahara syndrome.MSc Medical Diagnostics Thesis 115 August, 2002
    • Usman Omar GhaniReferences 1. Aicardi J, Goutieres F, encephalopathy myoclonic neonate, Rev EEG neurophysiol 1978; 8:99-101. 2. Aicardi J. Early myoclonic encephalopathy. In: Roger J, Dravet, Bureau M editors. Epileptic syndromes in infancy, childhood and adolescence, London: John Libby Eurotext, 1985, pp 124-128. 3. Andermann and Hart; epilepsia partialis continua; a clinical and historical review; 2001, 1:481-6. 4. Annegers JF: The History of Epilepsy. In Wyllie E (edition), Philadelphia, Lea and Febiger, 1993, pp 157-164. 5. Ben-Menachem E: Potential antileptic drugs; 4th edition. New York, Raven Press, 1995, pp 1063-1070. 6. Ben-Menachem E: Potential antileptic drugs; in levy RH, Mattson RH (editors): Antileptic drugs, 4th edition. New York, Raven Press, 1995, pp 1063-1070. 7. Bradley W; et al; Neurology in clinical practice: The neurological disorders, vol 11, 2nd edition, Butterworth-Heinemmann, Boston, pp 1078, 1480, 1996. 8. Cavazzuti GB, Nalin A, Ferrari F, Grandori L, Beghini GE. Encefalopatia epilettica ad insorgenza neonatale. Clinical pediatrics: 1978; 60; 239-46. 9. Clark M, Gill J, Noronha M, Mckinlay I. Early infantile epileptic encephalopathy with suppression-burst; Ohtahara syndrome, 32 reported cases in the United States of America. Dev Med child neurology; 1987; 29:520-8. 10. Commission of classification and terminology of the international league against epilepsy. Proposal for revised classification of epilepsy and epileptic syndromes. Epilepsia 1989; 30:389-399. 11. Dalla Bernardina B, dulac O, Fejerman N, et al. early myoclonic epileptic encephalopathy (EMEE), eur paediatric: 1983;140;248-52. 12. Delgado-Escueta AV, Treiman DM, Walsh GO: The treatable epilepsy. N Engl J Med, 1983; pp 1508-1514. 13. Denslow GT, Aicardi syndrome; A report of four cases and review of literature journal of pediatric opthal and strabismus: 1979, pp10-15. 14. Dreifuss, Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia, 22:249-260, 1981.MSc Medical Diagnostics Thesis 116 August, 2002
    • Usman Omar Ghani 15. DU Plessis AJ, Kaufmann WE, Kupsky WJ. Intra-uterine onset myoclonic encephalopathy associated with cerebral cortical dysgenesis. J Child neurol, 1993; 8: 164-70. 16. Dulac O; Infantile spasms and west syndrome, 1993, pp 464-491. 17. Engel J Jr (edition): Surgical treatment of the epilepsies, 2nd edition, New York, Raven press, 1993. 18. Gastaunt H and Broughton R (editors), Epileptic Seizures. Springfield, IL: Charles C Thomas, 1972. 19. Goldstien R F, GABA correlation with Gabapentin, institude of laboratory animals, Manhatten School of medicine, 1995). 20. Grandgeorge D, Favier A, Bost M, et al. A proposed neonatal myoclonic observation; 1980; pp 577-84. 21. Hallet M: Myoclonus, relation to epilepsy. Epilepsia 1985; 26 (edition 1); pp.67-74. 22. Hauser WA; commission on classification and terminology of the international league against epilepsy: Proposed for revised classification of epilepsy and epileptic syndromes, 1991, pp.389-399. 23. Hauser WA; The natural history of temporal lobe epilepsy, raven press, 1991, pp 133-144. 24. Laura D Errante, gabapentin and vigabatrin increase GABA levels in the human neocortical slice, department of neurosurgery, CT 06620-8018: 2002. 25. Luders H; Generalized disturbances of brain function: encephalopathies, coma and brain death, 3rd edition, Reshnal press, 2000, pp. 154-163. 26. Macmillan, types and orientation of neurons within the six layer neocortex, review of neuroscience, New York, 1980. 27. Markowitz J, experimental surgery, rodent animals, Baltimore, Maryland, 2nd edition, pp 124-125, 1986. 28. Martin HJ, Angelini L, Binelli s, et al. encephalopathy epileptic neonate’s disorder, neurophysiology clinical 1981; pp 397-403. 29. McLean MJ: Gabapentin. Epilesia 1995; 36 (suppl 2): S87-S94. 30. Messenheimer JA. Lamotrigine, epilepsia 1995.MSc Medical Diagnostics Thesis 117 August, 2002
    • Usman Omar Ghani 31. Messing RO; Commission on classification and terminology of the international league against epilepsy: A proposed international classification of epileptic seizures. Eplisia 1981; vol 22, pp 489-501. 32. Miller SP, Dilenge ME, Meagher-Villemure K. infantile epileptic encephalopathy and migrational disorder. Pediatric neurol 1998; 19(1): 50-4. 33. Murakami N, Ohtsuka Y, Ohtahara S. Early infantile epileptic syndromes with suppression-burst: early myoclonic encephalopathy vs. Ohtahara syndrome. Japan J Psychiatry neurol 1993; 47: 197-200. 34. Ogihara M, Kinoue K, Takamiya H, etal. A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. Brain dev 1993; 15: 133-9. 35. Ohtahara S. Clinic-electrical delineation of epileptic encephalopathies in childhood. Asian Med J 1978; 21:499-509. 36. Ohtahara S. seizure disorders in infancy and childhood. Brain development, 1984; 6: 509-519. 37. Oliver Wong, surgical out come for neocrtical focal epilepsy. 2nd edition. New York, Raven press, cd rom 897564/99; 1998. 38. Otahara S, Ohtsuka Y, Yamatogi Y, Oka E, Inoue H. early-infantile epileptic encephalopathy with suppression-bursts. In: Roger J, Wolf P, editors. Epileptic syndromes in infancy, in childhood and adolescence. London: John Libbey and company ltd; 1992: 25-34. 39. Panayiotopoulos et al, epilepsia in term by Temkin, 2nd edition: 1989. 40. Plouin P: Benign idiopathic neonatal convulsions; epileptic syndromes in neonates, 2nd edition, 1992, pp 3-12. 41. Renier WO. The malignant epilepsy of childhood and adolescence. In: Aldenkamp AP, Dreifuss FE, Reiner WO, Suumeijer PBM, editors. Epilepsy in children and adolescence. Boca raton: CRC Press, 1995; pp 162-165. 42. Robain and Dulac, epileptic syndrome association with olivary dentate nuclei dysplasia, Rev Itrol; 1992; 143-7. 43. Serratosa JM, Delgado-Escueeta AV: Juvenile myoclonic epilepsy. In Wyllie edition, 1993, pp 552-570. 44. Snead OC: Basic mechanisms of generalized absence seizures. ANN Neurol 1995; 37:146-157.MSc Medical Diagnostics Thesis 118 August, 2002
    • Usman Omar Ghani 45. Spreafico R, Angelini L, Binelli S, et al. burst suppression and impairment of neocortical ontogenesis: electro-clinical and neuropathologic findings in two infants with early myoclonic encephalopathy. Epilepsia 1993; 34: 800-8. 46. Spreafico R, Bosman C. Neonatal burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. Epilepsia 1993; 34 (5): pp 800-8. 47. Temkin O: The Falling Sickness, 2nd edition, Baltimore, John Hopkins University Press, 1999. 48. Tominaga I, Kaihou M, Kimura T, et al. early infantile epileptic encephalopathy (Ohtahara syndrome) with poly-microgyria. French Rev Neurol (Paris) 1993; 149 (10): 532-5. 49. Treiman LJ, Treiman DM: Genetic aspects of epilepsy. In Wyllie (Ed): Leae Febiger, 1993, pp 145-156. 50. Van Ness PC, frontal and parietal lobe epilepsy, //htp.neuronal signals.org.ak...98. 51. Woodbury DM, Vagal stimulation induces epilepsy; usage of electro implant metals in rats; 1991; 14:94-107. 52. Wyllie E : Corpus Epilepsy, outcome with respect to seizures, 1991. 53. Yoshiki Miura, college of medical laboratory, Kyoto University, Kyoto, Medline site, 2002.MSc Medical Diagnostics Thesis 119 August, 2002
    • Usman Omar GhaniAppendix 1 Supporting letter from Dr OhtaharaMSc Medical Diagnostics Thesis 120 August, 2002
    • Usman Omar GhaniAppendix 2 Supporting letter from Dr Kamal SawneyAppendix 3 Supporting letter from Dr Alison Shaw (refer to page 122).MSc Medical Diagnostics Thesis 121 August, 2002
    • Usman Omar GhaniMSc Medical Diagnostics Thesis 122 August, 2002
    • Usman Omar GhaniAppendix 4 Notes of meeting with Dr. Ian McShane, from Dr ShawDear Usman,Yes, I;m back (I was lecturing, so it wasnt really a break!). I haveprinted out a copy of the notes I made at our meeting with DR. Mcshane andwill put them in the post to you - I hope they are of some help.As I understood it, he thought that your medical diagnostic researchideas were not realistic. This is not because the research is unnecessary- it clearly is - but because any chance of success in finding an answerto a diagnostic question requires skills that you dont have and involvesuse of technolgies that have not been invented yet - in other words, yourquestions may be currently unanswerable given the current state oftechnical research expertise - and he thought that a project of this sortwould not get funded for these reasons.However, while you may think this is not very encouraging - though it isprobably a realistic assessment - he did think it might be worth reviewingthe extent of the problem in terms of incidence and demography and thecurrent research activity. The purpose of such an overview would be toprovide background information that would be useful in subsequentresearch. The overview would include details of incidence worldwide, anda review of what research is currently going on. A research proposalaiming to do this, indicating your methods and your timescale, issomething you could get together by September.By the way, are you thinking of seeing Jane Hurst again? I hope to speakto you soon. I am putting my notes in the post to you now, and I expect bynow you have had Dr. McShanes letter as well which will presumablysummarise these points.I hope all is well. Best wishes to Farzana, and to Alisha, and speak toyou soon,AlisonMSc Medical Diagnostics Thesis 123 August, 2002
    • Usman Omar GhaniAppendix 5 Notes on rare disorder meeting, from Dr Alison ShawMSc Medical Diagnostics Thesis 124 August, 2002
    • Usman Omar GhaniDear Usman,Greetings: assalaam alaikum.My email address is: Alison.Shaw@brunel.ac.uk.I am sending you some notes that I made on Helen MiddletonPrices talk atthe RSM meeting on 4th February.Let me know if this message reaches you successfully, and I will sendyou some further references.Please give my greetings to Farzana, and to Alisha,Best wishes,AlisonI made the following notes on Helen Middleton-Prices talk which wascalled DNA testing: how far can we go, and given at a meeting calledconsanguineous marriage in the UK: a multidisciplinary strategy MacKeith Meetings- 4 FEbruary 2002. Helen Middleton-Price is atthe Institute of Child Health, London. I dont think this is confidentialinformation. Much of this information is generally available in books andon websites. But if you want to use any of this in what you write, youwill need to reference your sources. You will probably find much the sameinformation at the website address gives.Anyway, here are my notes.There is DNA testing for the more common severe conditions: CysticFibrosis, incidence 1/2500; Duchenne Muscular Dystrophy 1/3000; Fragile X1/1500There are specialist services for rare conditions, selected in relation toresearch interests. Great Ormond Street hospital provides a service forrare metabolic disorders, X-linked conditions and cranio-spatialdisorders.There has been a dramatic increase in demand for DNA testing. 5000 geneticconditions have been identified, and the genes for 1000 of them havealready been found. Most new discoveries are for rare conditions, and DNAservices are currently offered only for more or less 200 rare conditionsin the UK.The Department of Health is currently formalising a genetic testingnetwork, a collaborative network, involving transfer of samples for raredisease testing. Reference laboratories are being set up by D.O.H inSalisbury and Manchester to provide new high through-put services for rareor orphan conditions.There are significant risks in certain ethnic groups:CF (in northern European populations); Sickle-cell (AfroCAribbean) ;thalassaemia (middle east and Pakistan); Tay Sachs (Ashkenazi Jews)Consanguineous families with rare conditions 125 a precious research August, 2002 MSc Medical Diagnostics Thesis are
    • Usman Omar GhaniAppendix 6 Supporting letter from Mrs Tamara HorakJune 11, 2002Dr. Anthony Woodman (Research Project Director)C/O Usman Omar GhaniCranfield UniversitySilsoe CampusSilsoeBedfordshireMK45 4DTEnglandDear Sir,Seven years ago my family entered a world we never expected to see. Our grandson,Tyler, was born full term, at 7 lbs. 15 oz., but our world was shattered. My daughterasked me at 7 months if you could feel seizures in the womb (she was feeling histonic seizures). I had no idea. Tyler was born seizing two months later. He spent hisfirst six weeks of life in the NICU hooked up to every machine and monitor in sight.He seized continually, and thus began his journey into the world of seizure meds. Hisfirst EEG was done when he was about 18 hours old and it showed the burstsuppression pattern. The neuro called the brain pattern, “scrambled eggs”. It was thatof a four-month fetus. He had his first MRI at 24 hours old. It showed a healthy,normal brain. The tests to find a dx went on for months; 2 CAT SCANS, 2 PETMSc Medical Diagnostics Thesis 126 August, 2002
    • Usman Omar GhaniSCANS, 2 MRI’S, special blood work, metabolic tests, mitochondrial tests, urinetests, long chain fatty acid test, 3 spinal taps more EEG’S. At 7 months of age, hissecond MRI showed atrophy of the frontal and temporal lobes. In the meantime, wehad a stream of unanswered questions, no one to talk to, and no one to give usanswers, no hope, and a terrifying sense of total and complete isolation. It was mindnumbing and very destructive. My husband and I went from grandparents to full timecaregivers very early on and my daughter’s brief marriage, quickly ended in divorce.Tyler continued to seize. We witnessed 50-100 prolonged, tonic seizures every dayand gradually several more seizure types began appearing: atonic seizures, gelasticseizures, myoclonic jerks, petite mals, temporal seizures, silent seizures, gran mals.The dx of Ohtahara Syndrome gave us a name, but little else. I began searching forany research on this illness and found very little. After nearly four years, I went onthe Internet and began searching for other families in the hopes of making aconnection. Slowly, and after putting Tyler’s story on every seizure or epilepsywebsite that had a message board, I began to find the families. I now know of, havecommunicated with, or spoken to, 80 families around the world with 83 children.That does not mean that I have communication with all of them. Some families havetold me about others in their countries that they have heard of, but have not been ableto communicate with. We now have a website for families with OS and some of thefamilies that I have found (or the new ones that are finding us) communicate there.Our web address is: www.ohtaharasyndrome@yahoogroups.com. I send the newfamilies what little in the way of research papers I have along with a picture of Tyler,and try to make their journey a little easier and give them some hope. We have lost25 of the little ones (the oldest was 4 years old). They have died from pneumonia’s,sudden death (can you imagine waking up in the morning to find YOUR little onedead in his bed?), infections, suffocation (he rolled over in his sleep for the first timein three years and couldn’t lift his head to breath), being born without the ability tobreath is its own, or in the arms of their mothers. Some have died by inches as thesevere, continuous seizures, slowly shut down one organ after the other. No familyshould ever have to face this kind of pain.Tyler is one of oldest boys in the world with OS that I know of. He is cortically blind,quadriplegic, severely developmentally delayed, no speech, and has severe,intractable seizures, but has a smile that could cure the ills of the world and a gigglethat could light up all the dark corners. We have been through all of the AED’s on themarket with little success. The only drug, which gave us, a measure of control for thetonic seizures, quit working after four years. We tried the Keto Diet, cranial sacraltreatments, natural remedies (herbs, oils etc.), and did all the testing in the hopes ofsurgery. We were told a few weeks ago that there is nothing else the medicalcommunity can do for us and Tyler now has hundreds of seizures every day. I knowthat there is not a miracle cure out there for our children, but someone needs to dosomething to stop this disorder, better treat this disorder, or at the very least, find whatconnects our families together, because something surely does.Every few weeks a new family with a precious, suffering baby, pops up on either theOS site, or my personal email address. They are all looking for answers and at leastnow, they have a place to start and a place to speak with other families. WE NEEDHELP, from the medical community. Because of the rarity of this disorder, very littleMSc Medical Diagnostics Thesis 127 August, 2002
    • Usman Omar Ghaniis being done to research it. Not enough money, not enough time, not enough interest,not enough children…don’t try telling that to our families. WE live with this 24/7and watch our little ones struggle daily just to survive against tremendous odds!!Usman has suffered much and like the rest of us wants answers. Please help him tofind them. Please help us to stop OS from ever destroying the life of another preciouschild. We are willing to do whatever is needed to find answers, but we need yourhelp.Thank you.Sincerely,Mrs. Tamara HorakAppendix 7 Supporting letter from Mrs Jennifer GhiodiaJuly 20th, 2002Dr. Anthony Woodman (Research Project Director)C/O Usman Omar GhaniCranfield UniversitySilsoeBedfordshireMK45 4DTEnglandDear Sir,Five years ago our son was born and our lives changed forever. Our son, Sebastianwas born full term, at 8lbs 7 oz with Apgars of 9 at one minute and 9 at five minutes.We took Sebastian home from hospital at a day and a half old and were sure he washaving seizures, but everyone we showed him too said babies don’t have seizures.While pregnant I told doctors of the strange movements I had felt and they said babieshave hiccups. We now know he was having seizures. At two weeks old Sebastianwas admitted to ICU at BC Children’s hospital and we spent the next many months inhospital. He had endless tests including: EEG’s, CAT Scans, MRI’s, Bariumswallows, EKG’s, Woods Lamp, Muscle Biopsy, Skin Biopsy’s, Genetic Genetesting, Blood, Urine, Stool testing galore, Lumbar Puncture’s (spinal tap), ApneaStudies, Bio-medical testing, Endoscopy, Metabolic testing, Mitochondrial Tests, theeye exam to see how well the brain is developing compared to the back of eyes, tubein the nose to see his voice box, four feeding studies and numerous more. HisMSc Medical Diagnostics Thesis 128 August, 2002
    • Usman Omar GhaniDiagnosis was actually found after his first EEG. We were told Sebastian hadOhtahara Syndrome and he would not live till his first birthday. He went through avery rough first few months of life and after nearly losing him several times we werefinally able to come home and watch his many types seizures and wait.We started researching this Ohtahara Syndrome, but there was very little out there, sowe started going online and searching for other families. Slowly families begancontacting us and we started learning more.Sebastian is one of the strongest children with OS that we know of. He is a veryamazing little boy; he is very developmentally delayed and cannot do anything forhimself. He wears glasses and is always looking around; his seizures are always therebut have been fairly well controlled in the past. Sebastian is learning to use his Tech-Talk to try to learn to communicate, he is good with using eye cues when given twochoices, but unable to tell us what he wants, need, or how he feels. We have beentold he has tried all drugs out their and their are not many more options for him.We have had the opportunity to visit three other families and gotten quite close withmany more families also facing this disorder. I believe there are similarities in thesechildren and with research and interest in the medical community answers can befound. Since our family began living with Ohtahara Syndrome we have not seen anynew research or interest in this disorder. We watch our son constantly struggleagainst such terrible odds and finally someone wants to find answers and helpfamilies, don’t take that away from us.Usman has offered something no one else has, please allow him to help us all findanswers we are all looking for. Please help us to stop Ohathara Syndrome fromdestroying the life of another precious child.Please feel free to contact us, we will help in any way we can. Phone #604-937-5040; email address jenstelseb@telus.netThank you.Sincerely,Mrs. Jennifer GhiodaMSc Medical Diagnostics Thesis 129 August, 2002
    • Usman Omar GhaniAppendix 8 Supporting letter from Mr and Mrs Walters 15 Parry Close Oxford OX3 OHY 01865 790 33721 July 2002DR. ANTHONY WOODMAN (DIRECTOR OF MEDICAL DIAGNOSTICS)UNIVERSITY OF CRANFIELDSILSOE CAMPUSSILSOEBEDFORDSHIREMK45 4DTDear SirI am writing in support of Usman Omar Ghani’s proposal for research fund in toOhtahara’s syndrome.I am the mother of a 9 week old girl – Katia who has been diagnosed with thissyndrome. It has had a major effect on all our lives and the lack of information aboutthe condition has made a distressing situation more acute.MSc Medical Diagnostics Thesis 130 August, 2002
    • Usman Omar GhaniUntil this diagnosis was made nobody I know had heard of the condition includingour GP. For all of us any research into the causes, treatment and prognosis of Ohtara’swould be wonderful. At present all the information is very clinical and in itselfdistressing to read.I believe Usman would give the families who are effected by this condition a valuableservice in studying this syndrome and we would be prepared to offer any informationto support him in this.Yours sincerelyHelen and Ben WaltersAppendix 9 Supporting letter from Mr and Mrs HeelasDr Anthony Woodman,Medical Diagnotics Director,Cranfield university.Dear Sir, I am writing to give all my support for the research of Ohtahara Syndrome. My sonJoshua first started to fit when he was 20 days old, he had an E.E.G which wasdescribed as grossly abnormal, (Burst Suppression) but his M.R.I. scan was fine. Thedoctor precribed two anti-convulants and continued to observe before sending himhome with a decrease in seizures, but this didnt last long, less than two weeks laterJosh was re-admitted with 100 fits per day. The doctors continued to investigate formetabolic defaults but nothing was found and they also tried to control Joshuasseizures with a change of medication. Joshua was diagnosed with OhtaharaSyndrome at the begining of the year he spent the majority of his short life inhospitals for management of his seizures which before he passed away were lasting90 minutes, ten times a day. In April, The consultant could no longer control Joshuasseizures, even with emergancy medication, he was then put under pallativeMSc Medical Diagnostics Thesis 131 August, 2002
    • Usman Omar Ghanicare, which consisted of 4 anti convulsants, 1 sedaditive med and morphine in his lastweek of life. Josh was still seizing through even this until he past away withrespiratory problems at acorns childrens hospice in Walsall.I cannot explain in words how devastating this syndrome is, and the more informationand research that can be collected on this condition the better and hopefully childrenlike joshua will never have to go through what he endured.Yours sincerelyMr & Mrs Heelas.Appendix 10 Supporting letter from Sir Reggie ShefieldDear Usman,Thank you for your telephone call the day before yesterday.I am writing to say that I am happy to give you any support in your attempt to get aresearch programme initiated by Dr Anthony Woodman at Cranfield University.You may be able to get funding from the Wellcome Foundation but Dr. Woodmanshould handle that himself. If I can be of any assistance do not hesitate to eitherEmail or ring me.Yours sincerely,Reginald SheffieldSir Reginald Sheffield,estate office,normanby,scunthorpe,n.lincs,01724720618.MSc Medical Diagnostics Thesis 132 August, 2002
    • Usman Omar GhaniAppendix 11 Supporting letter from Mrs VlietUsman Omar GhaniCare of dr. Antony Woodman (director of medical diagnostics)University of CranfieldSilsoe campusSilsoeBedfordshireMK 45 4 DTHello,My name is Esmeralda and my boyfriends name is Jeroen. We live in TheNetherlands. Our son Derek was born on 2 may 2002 en is diognosedwith OS after 4 weeks of age. His EEG shows ´burst suppression´. Hehas had lot of tests: blood, urine, brainfluid, MRI but the resultswere all negative.Five days after he was born we took him to the hospital because herolled his eyes and streched his back in a strange way.They gave him Phenobarbital, Fenytoine (not used anymore), Sabril(not used anymore), Rivotril, Vitamin B6 and Topamax in variousdoses. Derek was in the hospital for 9 weeks, but still has 1 or 2seizures every 30 minutes.He is home for 2 weeks now and we do not see any improvement. We arepositive that he is not looking at us and is not following thingswhit his eyes.MSc Medical Diagnostics Thesis 133 August, 2002
    • Usman Omar GhaniThere is not much information on the net (or anywhere else) about OS.The only information we got from our neurologist is the article aboutthe study of 16 cases described by Dr. Otahara.It would be fantastic when there is more research done so we, asparents, will know more about the prospect of our children.Kind regards,Esmeralda van VlietSterrenlaan 142665 BT BleiswijkThe NetherlandsAppendix 12 Supporting letter from Mr and Mrs Pearce20/7/02USMAN OMAR GHANI/CARE OF DR. ANTHONY WOODMAN (DIRECTOR OF MEDICALDIAGNOSTICS)UNIVERSITY OF CRANFIELDSILSOE CAMPUSSILSOEBEDFORDSHIREMK45 4DTDear Usman/DrWoodman,We have a 5-month-old daughter, Amanda Catherine who at 3 months of age wasDiagnosed with Ohtahara Syndrome. Amanda is the youngest of our 3 girls. EmilieMoira is currently 4 1/2, turning 5 in January, and Jennifer Amy willbe 3 in mid August, neither of them have OS.We have been in the UK for just over a year, and are flying home to Auckland, NewZealand on Tuesday 2nd September. I had a normal pregnancy and Amanda was bornon due date by emergency c-section. She went into fatal distress. Her APGAR scoreswere 9 and 10. All was fine at her 6-week check. Although she hadnt smiledyet, everyone said it was still early days and it would come.MSc Medical Diagnostics Thesis 134 August, 2002
    • Usman Omar Ghani As time went on things about her development started to "niggle" me. Having theother 2 I could compare. At 3 months of age to the day, she fitted at home afterhaving just been fed. This fit lasted 1-2 mins and involved all over shaking. We tookher to the emergency doctors, who advised us to take her to Wexham Park Hospitalthen and there.At this stage she hadnt smiled, had no head control and wasnt fixing and following.We were there for 5 days. On day 3 we went up to Oxford for an EEG. The followingday Dr Ian McShane told us she had something called Ohtahara Syndrome, what itwas and what the outcome could be. We were and still are devastated with the news.Since then we have had her on Vigabatrin, (which we just found out isnt having anyeffect), Biotin, Pyridoxal and the latest one Prednisolonetablets.We go back to Oxford next week for another EEG to find out if thesteroids are having any effect. We felt so isolated. I wouldnt wish thison anyone and hope like hell that Usman gets the funding he needs so we canall benefit from the answers. We fully support the research Usman is doingas so little is know about this syndrome. We dont know how Amanda gotthis, and what the outcome will be. We do know we love her and hersisters and want the best for her we can get. We do need to know more aboutOS, to help the families currently with it and for the ones who unfortunately mayfollow. We urge you to support this research project and approve funding.Regards Michelle PearceAppendix 13 supporting letter from Janice GroenewoldDr. Anthony Woodman,C/- Usman Omar Ghani,Cranfield University,Silsoe Campus,Silsoe,BedfordshireMK45 4DT,England.Dear Sir,Thankyou for the opportunity of writing this letter.We could celebrate the birth of our 6th child on the 1st of May 1993.She was full term and I had a wonderful pregnancy. I gave birth to her by normaldelivery and everything was very good.She had a good strong cry and her reflexes were also good. There were nocomplications and she breast fed very well.We went home from hospital on the 3rd day.Everything was fine with her at home the next day. That evening she was a littlefussy but nothing to be worried about.She was fine till about 9.30 in the morning when I notice her making jerking motionswith her eyes. This went on for about 5 minutes and them she stopped. She later didit again and again. I took her to the doctors and he sent us to the Hospital.MSc Medical Diagnostics Thesis 135 August, 2002
    • Usman Omar GhaniOnce we were at the hospital she eye jerked some more but also she started cylingwith her arms and legs. She would get very red in the face and cry. This went on forhours whilst they did tests for menagitis and blood tests for who knows what.She was hospitalized. They then told us that she was having siezures. We spent thenext 6 weeks in Neo-nates (newborn icu)All the while she was having constant siezures like clockwork. The was givenphenobarbitone and Phenetoin and also doses of Clonazepam. All test done with urineand blood work came back normal.She had a cranial CT Scan which showed: <compression of the left lateral ventricle pariculaly at the fontal horn. There wasalso slight swelling the left frontoparietal region and hypodensity of the deep whitematter, particulartly in the left frontal and bilateral temporal areas. It was reported asfeatures consistent with an area of oedema or infarction. Head unltrasound showedsimilar compression of the left lateral ventricle. An early EEG showed burstsuppression pattern bu5 no overt siezure activity. A repeat EEG however showedburst suppression over the right hemisphere paradoxically and also evedince offrequent seizure activity.>2 weeks later while still in hosptal she had a video EEG with:<confirmed Infantilespasms lasting approx 30 minutes and associaterd with Hypsarrythmia maximal onthe right.She had absence of knee and bicep jerks and had a weak asymmetric moro relflex.>She was now also diagnosed with Ohtahara Syndrome which meant absolutelynothing to us.By this time she was 2 month old and very floppy. She could not hold her head up ormove her arms or legs.She continued to have lots of siezures and was hospitalized many time in the first 2years of her life.It was with constant physio that at 9 months old I felt for the first time that she waspushing her leg against me.This gave us much hope that we could work with strengthening her muscles. Thesiezures and the drugs robbed herof her strength. We have battled on over the years with much labour of Love. Overthe years she has improved greatly tothe extent that she can sit un-aided, could crawl for some time but now bum shuffles,and also she will walk if you hold her arms.She does not talk, but we know that in many things she understands what is beingsaid.We have tried to do sign with her but it is very difficult for her. She will not feedherself although we are working on it most of the time. She goes to school 5 days aweek and is generally a very healthy girl. She is rarely sick although she does getquite a number of urine infections. This will be addressed very soon.Kym has been on almost all of the siezure medications that there are. It seems thatthey work for some time and then the just fade away. Also some medications that shehas had gave her terrible side effects.She is now on Phenobarbitone, Primidone, and Frisium. We also use Rivotril dropswhen she has a cluster of siezures. This always seems to help for her.MSc Medical Diagnostics Thesis 136 August, 2002
    • Usman Omar GhaniIt is frustrating to know that these siezures will never be controled completely bymedication. It is heartbreaking to see her have these siezures every day and night.It would be like a prayer answered to find a cure for our children with OhtaharaSyndrome.Please support Usman in the work that he needs to do to find some answers andif at all possible a cure to this syndrome.Thankyou for reading a little history on Kym.Kind regards,Janice Groenewold,31 Orleans Drive,Port Kennedy. W.A. 6172Western Australia.Appendix 14 Supporting letter from Susan TitbitsDr. Anthony Woodman (director of medical diagnostics)Cranfield universitySlisoeMK45 4DTDear Dr Anthony Woodman,I have asked Usman Ghani to pass this email onto you, as a support for the project,asconfirmation of our support for your research into Ohtahara syndrome.We would be happy to assist you in anyway we can, and would certainly behappy for you to speak with us, meet with Sarah or indeed to speak with ourlocal hospita;l paediatrician Dr Frances Howard.Dr Howards address is as follows:Dr Frances HowardConsultant paediatricianFrimley park HospitalFrimleyCamberleySurreyMSc Medical Diagnostics Thesis 137 August, 2002
    • Usman Omar GhaniIn addition I would be happy for you to speak with Sarahs Great ormondStreet consultants-Dr Stuart Boyd, Dr Carlos de Sousa Dr Gwilym HoskingWe have recently had a series of reports and assessments on sarah for thepurposes of securing for her a new school placement. These reports comprise medical,Occupational therapy, Physiotherapy, Speech/Communication and educationalpsychology assessments. We are happy to share these with you and Dr Woodman ifthey would prove helpful. We also have a summary of Sarahs life to date and are inthe process of making a video for the schools issue I mentioned above and again youare welcome to copies of both.Sarah at present is fit and well, her seizures are well controlled incomparison to the past!She tends not to have Grand Mals anymore, but does have many absences, and partialand complex partial fits regularlyHer current medication includes Tegretol Retard andEpilim Chrono.I have recently been in touch with Dr Yamatogi a colleague of Dr Ohtaharaafter reading a report I was directed to by the Yahoo Ohtahara website.He is also awaire of your proposed study, I believe Mr. Ghani has been in directcommunication with Dr. Ohtahara, this is a big achievement on his part, I, like manyother families, have been trying to contact Dr. Ohtahara for nearly 15 years, withoutsuccess, it is apperent Dr Ohtahara must have been impressed with his eargerness todo research in this disorder.He has confirmed that to the best of his knowledge and experience, although Sarah isnot the oldest surviving Ohtahara childat age 15, she is ceratinly the most capable interms of physical abilities, and genberal intelligence-despite the fact she is clearlymentally handicapped.Please feel free to contact me or any of Sarahs doctors mentioned if such contactwould be helpful to you Dr Woodman.I wish you luck with this very worthwhile project-it may not help ourchildren, but if it can help future Ohtahara children then it will have been a worthwileeffort, i do not know if you have children Dr Woodman, but any parent wuldunderstand the pain and heart ache of watching your children suffer in pain,we are notin a position to do anything, you can help us, if you were to set up this project, thewhole medical research communiuty, as well as parents of effected children, wouldaplaud you, sir.SincerlySusan TitbetsMSc Medical Diagnostics Thesis 138 August, 2002
    • Usman Omar GhaniAppendix 15 Supporting letter from Susan Donna Fay Donna Fay 78 Redmersh Leam Lane Gateshead NE10 8PS Date 30/07/2002Dr. Anthony WoodmanDirector of medical diagnosticsCranfield UniversitySilsoe CampusSilsoeMK45 4DTDear Mr WoodmanMSc Medical Diagnostics Thesis 139 August, 2002
    • Usman Omar GhaniI have recently heard that you maybe setting up a PhD study in Ohtahara syndrome,with Mr. Usman Omar Ghani, he like many other families is a victim of Ohtaharadisorder, he has worked very hard to bring people together, and bring people togetherto a family Ohtahara site, at present there are 35 members, I only joined last week.We have a five year old son who has this syndrome, and would be extremelyinterested in any research relating to this condition as there is little or none known.There is no collective study to over view this condition, such a study would havemassive impact on the collective knowledge of this disorder.Connor was born on the 18-01-97 he is my second son. He weighed 9lb at birth andseemed extremely healthy.He was diagnosed with this syndrome at 5wks.Dr Ramesh at the General Hospital Newcastle Upon Tyne is Connorsneurologist,and I have spoken to him about your study, he gives his full support, andwould be only to pleased to help if you were to contacthim.You can look at all of Connors medical records and EEGs. If there is any otherinformation you require regarding this matter please do not hesitate to contact me. Istrongly support this study and would ask you to set it up, for the sake of all familieseffected by Ohtahara syndrome.Yours truly,Donna FayAppendix 16 Supporting letter from Joyce EdidinJuly 24, 2002Dr. Anthony Woodman (Research Project Director)c/o Usman Omar GhaniCranfield UniversitySilsoe CampusSilsoeBedfordshireMK45 4DTDear Sir,I have a 22-month-old daughter diagnosed with Ohtahara Syndrome. I am writingthis letter in support of Usman’s Research Project Proposal.My daughter, Kaela, started seizing before she was born. At two days old she wasadmitted to Children’s Hospital in Seattle, Washington, USA. At 20 days old, afternumerous tests and procedures, she had a tracheotomy and gastrotomy because shewas apneic and could not swallow on her own. The doctors had no idea what waswrong with her. At 25 days old she had an EEG that indicated Ohtahara Syndrome.We were given a grave prognosis for her. Our life has not been the same ever since.MSc Medical Diagnostics Thesis 140 August, 2002
    • Usman Omar GhaniShe is very bright and she understands a lot of what we say. Weve taught her torespond to yes/no questions by blinking once for "yes." Shell take a big breath whenwe ask her to. Her tracheostomy has enabled us to keep her very healthy. She has ahard time moving her body unless she can get enough air in. She is trying to use herhands, arms, and legs now and tries to balance her head when held upright. All ofthese things she can now do after we have worked long hours with her.We do not give Kaela anti-convulsants since we noticed that they didn’t really workon the other OS kids. Since the seizures are intractable there is no hope for her withstandard seizure therapies. Instead, we follow the programs started by Glenn Doman,et al at the Institutes for the Achievement of Human Potential. We work many hoursa day on her therapy, which has helped her develop, although very slowly.This syndrome requires research, but until now no one has stepped forward tostudy this unpopular disorder. Most parents are told “sorry, there is nothingthat we can do to help” and then sent home very distraught and confused,waiting for their severely brain-injured child to die. The callousness that ourfamilies have experienced is an atrocity. Please help take a step toward betterunderstanding of this rare, little known syndrome by providing funding for Usman’sproposed research.Thank you for your time and thoughtful consideration for Kaela’s future and thefuture of all OS children.Most sincerely,Joyce EdidinAppendix 17 Ohtahara questionnaire Usman Omar Ghani University of Cranfield. Silsoe campus Silsoe Bedfordshire MK45 4DTTo whom it may concernRef: Ohtahara Syndrome questionnaire.Dear sir/madam,I am researching a rare syndrome, for my MSc thesis at Cranfield University. Couldyou please take a few minutes and fill in the attached questionnaire. The aim of thequestionnaire is to evaluate the current awareness of the rare disorder Ohtaharasyndrome, in the medical community.MSc Medical Diagnostics Thesis 141 August, 2002
    • Usman Omar GhaniYour cooperation and time is appreciated, please be free to make any additionalcomments.Yours truly,Usman Omar GhaniOhtahara syndrome questionnairePlease tick the appropriate line. 1. Have you heard of Ohtahara syndrome?…. Yes…. No 2. Ohtahara syndrome:…. Is an epileptic syndrome.…. Is a neuro muscular syndrome.…. Is it a psychological syndrome. 3. Ohtahara syndrome is also known as:….. Early myoclonic encephalopathy.MSc Medical Diagnostics Thesis 142 August, 2002
    • Usman Omar Ghani…. Early infantile epileptic encephalopathy.…. Juvenile myoclonic epilepsy. 4. What causes Ohtahara syndrome?…. Poisoning.…. Infection.…. Head injury.…. Genetic factors.…. Prenatal injury.…. Aetiology is yet unknown. 5. Ohtahara syndrome effects:…. One in a million live cases.…. One in one hundred thousand live cases.…. One in forty thousand live cases.…. One in ten thousand live cases.…. Not known. 6. Ohtahara syndrome effects:…. Mainly adults.…. The elderly.…. Infants from birth.…. Adolescence. 7. What are the symptoms of Ohtahara syndrome?…. Tremor.…. Weight loss.…. Muscle deteriation.…. Tonic seizures, which maybe either generalized and symmetrical. 8. How is Ohtahara syndrome diagnosed?…. Through an ECG.…. Through an EEG.…. Blood tests. 9. How can Ohtahara syndrome be controlled?…. Drug medication.…. Physiotherapy.…. Diet control.…. Surgery.MSc Medical Diagnostics Thesis 143 August, 2002
    • Usman Omar Ghani 10. Is the epidemiology of Ohtahara syndrome known?…. Yes.…. No.…. Don’t know. 11. Can Ohtahara syndrome be prevented?…. Yes.…. No.…. Don’t know. 12. The prognosis of Ohtahara syndrome is:…. Good.…. Poor.…. Don’t know. 13. Would you like to know more about Ohtahara syndrome?…. Yes.…. No. 14. Is there a need for more medical research in Ohtahara syndrome?…. Yes.…. No.…. Don’t know. 15. If there was a research project set up to provide a demographic and epidemiological overview of Ohtahara syndrome, together with a discussion of its social aspects and the presentation of Ohtahara data base cases, would you give your backing?…. Yes.…. No.…. Don’t know.Additional informationWhat is Ohtahara Syndrome ?Ohtahara syndrome is a neurological disorder characterized by seizures. The disorderaffects newborns, usually within the first three months of life. Individuals withOhtahara syndrome often have mental retardation or other developmentalimpairments. The cause of the disorder is unknown.MSc Medical Diagnostics Thesis 144 August, 2002
    • Usman Omar GhaniIs there any treatment?There is no cure for Ohtahara syndrome. Treatment is symptomatic and supportive.Most drug therapy has limited effect.What is the prognosis?Ohtahara syndrome often is fatal. Survivors suffer from severe mental and physicalimpairment.What research is being done?There has been research orchestrated around the world, on specific cases, to date nocollective case data is available and more research is required to understand thissyndrome.Additional commentsPlease feel free to write any additional comments:MSc Medical Diagnostics Thesis 145 August, 2002