Terminology, epidemiology, and pathogenesis of autism phc,dammam


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Terminology, epidemiology, and pathogenesis of autism phc,dammam

  1. 1. 3/30/2014
  2. 2. 3/30/2014 Terminology, epidemiology, and pathogenesis of autism spectrum disorders (ASD) DR. NOOR ALMADAWI, PEDIATRION NATIONAL GUARD PHC DAMMAM
  3. 3. 3/30/2014 ASDs are a range of neurological disorders marked by impairment in social functioning, communication, and repetitive and unusual patterns of behavior. (Autism Society of America, 2008)
  4. 4. 3/30/2014 Leo Kanner, in 1943 described 11 children with ―Autistic disturbances of affective contact‖ 􀂄 Poor social skills 􀂄 Quantitative and qualitative defects of communication 􀂄 Professional, high achieving parents Coined the term, Refrigerator mother Hans Asperger, in 1944, described ―autistic psychopathy‖ Poverty of social interaction Failure of communication Oddities of non-verbal communication – gaze aversion, prosody Attractive appearance Similarities between the parents and children Resistance to change HISTORY
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  6. 6. 3/30/2014 Childhood psychosis Kanner’s syndrome Autism Pervasive developmental disorder Autistic spectrum disorder Terminology
  7. 7. 3/30/2014 • Communication is defined as: According to the Webster Dictionary communication is defined as a act of connecting with or conveying either by verbal or non verbal. Webster Dictionary, Published 1997, Landoll. Inc
  8. 8. 3/30/2014 Verbal Communication • Language, we all have a gift of speaking • Using the right words at the right time. • Account for all the words you say and meaning. • Saying the right thing at the wrong time.
  9. 9. 3/30/2014 Non-Verbal • Body Language • What message are you giving by your Expressions • Judging by visual expressions • Saying a positive thing with a negative expression
  10. 10. 3/30/2014 Pervasive Developmental Disorders" (PDD) • Biologically based neurodevelopmental disorders characterized by impairments in three major domains: • Socialization, • Communication, • And behavior. Pervasive Developmental Disorders. In: American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR®). American Psychiatric Association, Washington, DC 2000. p. 70.
  11. 11. 3/30/2014 Triad of Autistic Impairment Impairment of social interaction Impairment of language and communication Impairment of flexibility of thought ADS
  12. 12. 3/30/2014 Ears Noise words personEyes Non- Verbal Body VerbalYou Autistic Individuals don’t see the big picture
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  14. 14. 3/30/2014 Prevalence • The majority of studies conducted from the mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD, compared to 0.4 to 0.5 per 1000 in previous decades • NOW::::::2009 __________ 1 IN 91 • • 100,000 saudi child has autism in 2008 • Now: in saudia arabia 1 every 144 is autistic • Four times more prevalent in boys than in girls National Autism Association Article Date: 07 Oct 2009 - 2:00 PDT
  15. 15. 3/30/2014 These disorders include Autistic disorder (classic autism, sometimes called early infantile autism), Childhood Autism, or Kanner's autism) Rett’s disorder Childhood disintegrative disorder Asperger’s disorder (also known as Asperger syndrome) Pervasive Developmental Disorder, Not Otherwise Specified (Pdd-nos), Including Atypical Autism
  16. 16. 3/30/2014 specific criteria to diagnose autistic disorder
  17. 17. 3/30/2014 Diagnostic criteria for autistic disorder A B C 1. Qualitative impairment in social interaction, as manifested by at least two of the following: a. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction b. Failure to develop peer relationships appropriate to developmental level c. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g , by a lack of showing, bringing, or pointing out object of interest) d. Lack of social or emotional reciprocity A. A total of 6 or more items from 1., 2., and 3., with at least two from 1., and one each from 2. and 3.: Cnt.
  18. 18. 3/30/2014 • 2. Qualitative impairments in communication as manifested by at least one of the following: a. Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) b. In individuals with adequate speech, marked impairment in the ability to initiate or sustain conversation with others c. Stereotyped and repetitive use of language or idiosyncratic language d. Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level Cnt.
  19. 19. 3/30/2014 • 3. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: a. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus b. Apparently inflexible adherence to specific, nonfunctional routines or rituals c. Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting, or complex whole-body movements d. Persistent preoccupation with parts of objects Cnt.
  20. 20. 3/30/2014 • B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years:  1. social interaction,  2. language as used in social communication,  or 3. symbolic or imaginative play • .C. The disturbance is not better accounted for by Rett's Disorder or (CDD) Childhood Disintegrative Disorder Cnt. Reproduced from: American Psychiatric Association. (DSM-IV-TR Diagnostic and Statistical Manual of Mental Disorders, 4th ed, text revision, American Psychiatric Association, Washington, DC 2000. Copyright ©2000 American Psychiatric Associ
  21. 21. 3/30/2014 Screening tools for autism spectrum disorders • Screening is defined as a brief, formal, standardized evaluation, the purpose of which is the early identification of patients with unsuspected deviations from normal. • A screening instrument enables detection of conditions/concerns that may not be readily apparent without screening. • Screening does not provide a diagnosis; it helps to determine whether additional investigation (e.g, a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary
  22. 22. 3/30/2014 Several screening tools have been developed for use in children younger than three years of age • Checklist for Autism in Toddlers (CHAT) • Quantitative Checklist for Autism in Toddlers (Q-CHAT) • Modified Checklist for Autism in Toddlers (M-CHAT) • Checklist for Autism in Toddlers-23 (CHAT-23) • Pervasive Developmental Disorders Screening Test II, Primary Care Screener (PDDST-II PCS) • Screening Tool for Autism in Two-Year-Olds (STAT) Johnson, CP, Myers, SM. Identification and evaluation of children with autism spectrum disorders. Pediatrics 2007; 120:1183.
  23. 23. 3/30/2014 Checklist for Autism in Toddlers (CHAT <18m • Section A - Ask Parent: • Yes or No? • ____ 1) Does your child enjoy being swung( , bounced on your knee, etc? • ____ 2) Does your child take an interest in other children? • ____ 3) Does your child like climbing on things, such as up stairs? • ____ 4) Does your child enjoy playing peek-a-boo /hide- and-seek? • ____ *5) Does your child ever pretend , for example, to make a cup of tea using a toy cup and teapot, or pretend other things? • ____ 6) Does your child ever use his/her index finger to point, to ask for something? • ____ *7) Does your child ever use his/her index finger to point, to indicate interest in something? • ____ 8) Can your child play properly with small toys (e.g. cars or bricks ) without just mouthing, fiddling , or dropping them? • ____ 9) Does your child ever bring objects over to you, to show you something
  24. 24. 3/30/2014 • Section B - GP's observation • Yes or No? • ____ i) During the appointment, has the child made eye contact with you? • ____ *ii) Get child's attention, then point across the room at an interesting object and say "Oh look! There's a (name a toy)!" Watch child's face. Does the child look across to see what you are pointing at? • NOTE - to record yes on this item, ensure the child has not simply looked at your hand, but has actually looked at the object you are pointing at. • ____ *iii) Get the child's attention, then give child a miniature toy cup and teapot and say "Can you make a cup of tea?" Does the child pretend to pour out the tea, drink it etc? • NOTE - if you can elicit an example of pretending in some other game, score a yes on this item • ____ *iv) Say to the child "Where's the light?" or "Show me the light". Does the child point with his/her index finger at the light? • NOTE - Repeat this with "Where's the teddy ?" or some other unreachable object, if child does not understand the word "light". To record yes on this item, the child must have looked up at your face around the time of pointing. • ____ v) Can the child build a tower of bricks ? (If so, how many?) (Number of bricks...) • * Indicates critical question most indicative of autistic characteristics Cnt. British Journal of Psychiatry (1996), 168, pp. 158-163 Psychological markers in the detection of autism in infancy in a large population. AUBaron-Cohen S; Cox A; Baird G;
  25. 25. 3/30/2014 Quantitative Checklist for Autism in Toddlers (Q-CHAT) 1
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  27. 27. 3/30/2014 3
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  29. 29. 3/30/2014 22
  30. 30. 3/30/2014 M-CHAT 2006 1
  31. 31. 3/30/2014 2
  32. 32. 3/30/2014 I.Q. in autism 50 IN 50% 50-70 in 20% 70-100 in 30% the last is the BEST BUT IN ONE SIDE OF ART High functioning autism is the term used to describe individuals with intelligence quotient (IQ) >70 (ie, borderline and above intelligence).
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  34. 34. 3/30/2014 http://www.gulfkids.com/ar/books-9.htm
  35. 35. 3/30/2014 • Medical conditions associated with autism . • Between 45 and 60 percent of children with autism are mentally retarded. • Seizures occur in 11 to 39 percent of children with ASD. The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation). • A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome, such as phenylketonuria, fetal alcohol syndrome, tuberous sclerosus, fragile X syndrome, or Angelman syndrome. These syndromes are usually diagnosed at or shortly after birth.
  36. 36. 3/30/2014 The pathogenesis of ASD is incompletely understood • There is increasing evidence for the role of genetic factors in the etiology of autism • Evidence for the strong genetic contribution to development of ASD is derived from the following observations • Unequal sex distribution, with 4:1 male predominance • Increased prevalence in siblings of patients with ASD compared to the general population • High concordance rate among monozygotic twins Pediatrics. 2007 Nov;120(5):1183-215. Epub 2007 Oct 29.
  37. 37. 3/30/2014 • Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role • These abnormalities include diffuse differences in total and regional gray and white matter volumes, sulcal and gyral anatomy, brain chemical concentrations, neural networks, brain lateralization, and cognitive processing compared to individuals without autism Cnt. NA-MIC AHM Salt Lake City, UT Jan 11, 2007 MRI findings in 77 children with non-syndromic autistic disorder.. 2009;4(2):e4415. Epub 2009 Feb 10.
  38. 38. 3/30/2014An Autistic Brain: result or cause of autism? Larger frontal lobes due to excess white matter • Corpus Collosum is undersized • Amygdala is enlarged 10% larger hippocampus. This region is responsible for memory. ASD patients rely on memory to interpret situations • Cerebellum is larger also due to excess white matter Too many cables within local areas but not enough linking different regions Cnt.
  39. 39. 3/30/2014 • Parental age — Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD • . This is perhaps related to de novo spontaneous mutations and/or alterations in genetic imprinting. Advancing paternal age and autism. Gen Psychiatry. 2006 Sep;63(9):1026-32. Arch Pediatr Adolesc Med. 2007 Apr;161(4):334-40. Advanced parental age and the risk of autism spectrum disorder. J Epidemiol. 2008 Dec 1;168(11):1268-76. Epub 2008 Oct 21. Cnt.
  40. 40. 3/30/2014 • Lack of association with immunizations — Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]). However, the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism . Thimerosal and the occurrence of autism: negative ecological evidence from Danish population-based data. Pediatrics 2003; 112:604. AUTISM AND VACCINES:the TRUTH beyond the CONTROVERSY Pediatrics on the Parkway November 15, 2008 Cnt.
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  42. 42. 3/30/2014 Possible Red Flags for Autism • The child does not respond to his/her name. • The child cannot explain what he/she wants. • The child’s language skills are slow to develop or speech is delayed. • The child doesn’t follow directions. • At times, the child seems to be deaf. • The child seems to hear sometimes, but not other times. • The child doesn’t point or wave ―bye-bye. • The child seems to prefer to play alone. • The child gets things for him/herself only The child used to say a few words or babble, but now he/she doesn’t. The child throws intense or violent tantrums. The child has odd movement patterns. The child is overly active, uncooperative, or resistant. The child doesn’t know how to play with toys. The child doesn’t smile when smiled at. The child has poor eye contact. The child gets ―stuck‖ doing the same things over and over and can’t move on to other things.
  43. 43. 3/30/2014 • The child is very independent for his/her age. • The child does things ―early‖ compared to other children. • The child seems to be in his/her ―own world.‖ • The child seems to tune people out. • The child is not interested in other children. • The child walks on his/her toes. • The child shows unusual attachments to toys, objects, or schedules (i.e., always holding a string or having to put socks on before pants). • Child spends a lot of time lining things up or putting things in a certain order. • Cnt. The National Institute of Child Health and Human Development (NICHD), Autism Overview: What We Know ,2005
  44. 44. 3/30/2014 Asperger syndrome • First identified by Hans Asperger in 1944 • unusual social styles, even lack of eye contact in interactions, or poor social skills. • Difficulty making friends. • Difficulty reading or communicating through non verbal social cues, such as facial expressions. Cannot read body language. • Have difficulty introducing themselves into groups of people or conversations. • Obsessive focus on a narrow interest different way of thinking and interacting with their environment
  45. 45. 3/30/2014 Where Asperger’s Syndrome Differs from Autism Autism Asperger’s Syndrome Severe problems with language No significant language delay or problems with structure Significant learning difficulties Learning difficulties less severe
  46. 46. 3/30/2014 In fact….. People with Asperger’s Syndrome usually have average or above average intelligence LITTLE PROFESSORS….
  47. 47. 3/30/2014 • Individuals with AS have low-IQ. • Effect of bad parenting • Person should be able to control their behavior Strengths Individuals with AS are quirky but are also creative and intelligent. Can be successful in “narrow” careers, IT, Engineering Have a unique perspective Common Misconception s
  48. 48. 3/30/2014 • Rett’s disorder • It was described in 1966 by Andreas Rett, an Austrian neuropediatrician • It's quite rare with only one affected out of every ten to fifteen thousand children. • • a neurodevelopmental disorder that occurs almost exclusively in females. • Affected patients initially develop normally • , then gradually lose speech and purposeful hand use sometime after 18 months of age. • Most cases result from mutations in the MECP2 gene. • Characteristic features include: • deceleration of head growth (in contrast to acceleration of head growth, which occurs in other ASD), • stereotypic hand movements, • Dementia seizures, autistic features, ataxia, and breathing abnormalities subsequently develop
  49. 49. 3/30/2014 • Deceleration of brain growth begins after birth • . In a postmortem study of 39 patients 3 to 35 years old, most RETT’S brains were smaller than normal and did not grow after age four years • In contrast, the heart, kidneys, liver, and spleen grew at a normal rate until 8 to 12 years of age. At that time, their growth rate decelerated, but continued so that organ weights were appropriate for height, which was also reduced. Adrenal organ weights were normal. Armstrong, DD, Dunn, JK, Schultz, RJ, Herbert, DA. Organ growth in Rett syndrome: a postmortem examination analysis. Pediatr Neurol 1999; 20:125.
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  51. 51. 3/30/2014 Cnt.
  52. 52. 3/30/2014 Exclusion Criteria • Evidence of intrauterine growth retardation • Organomegaly or other signs of storage disease • Retinopathy or optic atrophy • Microcephaly at birth • Evidence of perinatally acquired brain damage • Existence of identifiable metabolic or other progressive neurological disorder • Acquired neurological disorders resulting from severe infections or head trauma Cnt.
  53. 53. 3/30/2014 DSM-IV: Diagnosis of Rett’s Disorder • A. All of the following: – (1) apparently normal prenatal and perinatal development – (2) apparently normal psychomotor development through the first 5 months after birth – (3) normal head circumference at birth • B. Onset of all of the following after the period of normal development: – (1) deceleration of head growth between ages 5 and 48 months – (2) loss of previously acquired purposeful hand skills between ages 5 and 30 months with the subsequent development of stereotyped hand movements (e.g., hand-wringing or hand washing) – (3) loss of social engagement early in the course (although often social interaction develops later) – (4) appearance of poorly coordinated gait or trunk movements – (5) severely impaired expressive and receptive language development with severe psychomotor retardation
  54. 54. 3/30/2014 Rett’s Disorder
  55. 55. 3/30/2014 • Rett’s Disorder – Mostly females – Deterioration in developmental milestones, head circumference, overall growth – Loss of purposeful hand movements – Stereotypic hand movements (hand-wringing, hand washing, hand-to-mouth) – Poor coordination, ataxia, apraxia – Loss of verbalization – Respiratory irregularity – Early seizures – Low CSF nerve growth factor • Autistic Disorder – Mostly males – Abnormalities present from birth – Stereotypic hand movements not always present – Little to no loss in gross motor function – Aberrant language, but not complete loss – No respiratory irregularity – Seizures rare; if occur, develop in adolescence – Normal CSF nerve growth factor
  56. 56. 3/30/2014 Childhood Disintegrative Disorder • is a regressive disorder. • This favors boys and does not begin to show symptoms before three to four years. • By this time the child has meet many of their early milestones. They are walking, potty trained, affectionate and will be speaking. They'll enjoy playing with their peers. • Then it will begin without warning and over the space of just a few months all this progress will stop. The child will lose whatever language they have and will no longer be able to control their bowel or bladder. They may begin to have seizures and will usually have a low IQ. This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen, uncommunicative and lose all they have learned.
  57. 57. 3/30/2014 Pervasive Developmental Disorder not Otherwise Specified PDD -NOS • is the name used for people who have many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category. The person may have most of the symptoms, a very few or almost none. It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder
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  59. 59. 3/30/2014 Treatments • Speech and Language Therapy • Behavioral management • Physical and Occupational Therapy • Music Therapy • Computer Therapy • Socialization Therapy
  60. 60. 3/30/2014 http://www.gulfkids.com/ar/book9-1836.htm
  61. 61. 3/30/2014 http://www.gulfkids.com/ar/book 9-2038.htm
  62. 62. 3/30/2014 More references • Edelson, M. (2006). Are the Majority of Children With Autism Mentally Retarded? A Systematic Evaluation of the Data. Focus on Autism and Other Developmental Disabilities. 21, (2),66-83. • Bellini, S,. And Hopf, A. (2007). The Development of the Autism Social Skills Profile: A Preliminary Analysis of Psychometric Properties. Focus on Autism and Other Developmental Disabilities. 22, (2), 80-87. • Koegel, R,. And Koegel L. (1995). Teaching Children with Autism. Baltimore: Paul H. Brookes Publishing Co., Inc. • Murdock, L., Cost, H., and Tieso, C. (2007). Measurement of Social Communication Skills of Children With Autism Spectrum Disorders During Interactions With Typical Peers. Focus on Autism and Other Developmental Disabilities. 22 (3), 160-172. • Myles, B., Lee, H., Smith, S., Tien, K., Chou, Y., Swanson, T., and Hudson, J. (2007). A large-Scale Study of the Characteristics of Asperger Syndrome. Education and Training in Developmental Disabilities. 42 (4), 448-459. • Richard, G. (1997).The Source for Autism. Illinois: LinguiSystems, Inc. • Sewell, K. (1998). Breakthroughs: How to Reach Students with Autism. Wisconsin: Attainment Publication. • Simons, J., and Oishi, S. (1987). The Hidden Child: The Linwood Method for Reaching the Autistic Child. Maryland: Woodbine House. • Tyron, P., Mayes, S., Rhodes, R., and Waldo, M. (2006). Can Asperger’s Disorder be diffrentiated from Autism Using DSM-IV Criteria? Focus on Autism and Other Developmental Disabilities. 21, (1).pp. 2-6. •-
  63. 63. 3/30/2014 Thanks What ?!
  64. 64. 3/30/2014 See you Next lecture