PROFILE OF AUTISTIC PATIENTS. GUIDED BY, SUBMITTED BY, Dr, TONY ...Document Transcript
<br />GUIDED BY, SUBMITTED BY, Dr, TONY NASEENA HAMZA Junior Resident MAHDOORA Dept OF COMMUNITY MEDICINE. SATHVIKHA. S. P.<br />CERTIFICATE<br />Department of Community medicine<br />Medical college<br />Trivandrum<br />REPORT OF PROJECT WORK ON<br /> A descriptive study on The profile of Autism among children attending ICCONS and CHILD DEVELOPMENT CENTER, SATH.<br />Guide: Dr. Tony Done by;<br /> Department of Community medicine<br /> SATHVIKA SP<br />Signature ; NASEENA HAMZA<br /> MAHDOORA<br /> Certified that this report is a bonafide record of the research project undertaken to fulfill the curriculum requirements of the graduate medical education as stipulated by the Medical council of India and was done during the year 2009-2010. <br />Date; Professor and Head of Department<br /> (Office Seal)<br />ACKN0WLEDGEMENTS<br /> WE would like to express our heartfelt gratitude to the Department of Community medicine who gave us a wonderful opportunity to do this project. We express our deep sense of gratitude to Dr. Tony, Dept, of Community medicine, Medical College, Tvm for his valuable guidance and encouragement in conducting this study. We also take this opportunity to express our deep sense of gratitude to Dr. Suresh, the Director of ICCONS, without whom this project would not have been a success. We are also grateful to all parents of the children we studied for their kind co-operation and help. This project would not have been possible without the co-operation and help of all the medical staff at the ICCONS and CDC for their motivation which has always been with us. Last but not the least we thank “GOD ALMIGHTY” for his choicest blessings to undertake this project MAHDOORA<br /> NASEENA HAMZA <br /> SATHVIKA S P <br /> 2006 MBBS , Medical college, Tvm<br />Abstract<br />BACKGROUND AND RATIONALE<br /> Autism is a neuro developmental disorder that remains largely mysterious. The incidence of autism is on the rise. It is unknown how much, if any, growth came from changes in autisms prevalence. This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis and public awareness, though unidentified environmental risk factors cannot be ruled out.<br />OBJECTIVES<br />A descriptive study on profile of autistic patients namely, sociodemographic, paternal, maternal, family history, antenatal factors, and postnatal factors among a group of 30 autistic children attending ICCONS , for a period of 2 months ,i.e. November to December 2009.<br />METHODOLOGY<br />We collected the data by interviewing the guardians of the autistic patients attending the ICCONS.<br />CONTENTS<br />Page number1INTRODUCTION62METHODOLOGY273RESULTS294LIMITATIONS AND SUGGESTIONS705DISCUSSION716CONCLUSION767BIBLIOGRAPHY77<br /> INTRODUCTION <br /> At first glance you may not notice anything odd on meeting a young boy with autism. But if u try to talk to him, it will quickly become obvious that something is seriously wrong. He may not make eye contact with you; instead he may avoid your gaze and fidget, rock his body to and fro, or bang his head against the wall. More disconcerting, he may not be able to conduct anything remotely resembling a normal conversation. Even though he can experience emotions such as fear, rage and pleasure, he may lack genuine empathy for other people and be oblivious to subtle social cues that most children would pick up effortlessly,<br /> In the 1940s two physicians- American psychiatrist Leo Kanner and Austrian pediatrician Hans Asperger- independently discovered this developmental disorder, which afflicts about 0.5% of American children. Neither researcher had any knowledge of other’s work, nor yet by an uncanny coincidence each gave the syndrome the same name; AUTISM, which derives from the Greek word autos meaning “self”. The name is apt; the most conspicuous feature of the disorder is a withdrawal from social interaction. More recently, doctors have adopted the term “autism spectrum disorders” to make it clear that the illness has many related variants that range widely in severity but share some characteristic symptoms.<br />WHAT IS AUTISM? <br /> Autism is a brain development disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism involves many parts of the brain; how this occurs is not well understood. The two other autism spectrum disorders (ASD) are Asperger syndrome, which lacks delays in cognitive development and language, and PDD-NOS, diagnosed when full criteria for the other two disorders are not met. <br />EPIDEMIOLOGY<br />Reports of autism cases per 1,000 children grew dramatically in the U.S. from 1996 to 2007. It is unknown how much, if any, growth came from changes in autism's prevalence.<br />Most recent reviews tend to estimate a prevalence of 1–2 per 1,000 for autism and close to 6 per 1,000 for ASD; because of inadequate data, these numbers may underestimate ASD's true prevalence. childhood disintegrative disorder at 0.02 per 1,000. The number of reported cases of autism increased dramatically in the 1990s and early 2000s. This increase is largely attributable to changes in diagnostic practices, referral patterns, availability of services, age at diagnosis, and public awareness, though unidentified environmental risk factors cannot be ruled out. <br />CHARECTERISTICS <br /> Autism first appears during infancy or childhood, and generally follows a steady course without remission. Overt symptoms gradually begin after the age of six months, become established by age two or three years and tend to continue through adulthood, although often in more muted form. It is distinguished not by a single symptom, but by a characteristic; triad of symptoms: impairments in social interaction; impairments in communication and restricted interests and repetitive behavior. Other aspects, such as atypical eating, are also common but are not essential for diagnosis. Autism's individual symptoms occur in the general population and appear not to associate highly, without a sharp line separating pathologically severe from common traits. <br />Social development:<br /> Social deficits distinguish autism and the related autism spectrum disorders from other developmental disorders. People with autism have social impairments and often lack the intuition about others that many people take for granted. Unusual social development becomes apparent early in childhood. Autistic infants show less attention to social stimuli, smile and look at others less often, and respond less to their own name. Autistic toddlers differ more strikingly from social norms; for example, they have less eye contact and turn taking, and are more likely to communicate by manipulating another person's hand. Three- to five-year-old autistic children are less likely to exhibit social understanding, approach others spontaneously, imitate and respond to emotions, communicate nonverbally, and take turns with others. However, they do form attachments to their primary caregivers. They display moderately less attachment security than usual, although this feature disappears in children with higher mental development or less severe ASD. Older children and adults with ASD perform worse on tests of face and emotion recognition. Contrary to common beliefs, autistic children do not prefer being alone. Making and maintaining friendships often proves to be difficult for those with autism. For them, the quality of friendships, not the number of friends, predicts how lonely they feel. Functional friendships, such as those resulting in invitations to parties, may affect their quality of life more deeply. The limited data suggest that, in children with mental retardation, autism is associated with aggression, destruction of property, and tantrums. <br />Communication:<br /> About a third to a half of individuals with autism do not develop enough natural speech to meet their daily communication needs. Differences in communication may be present from the first year of life, and may include delayed onset of babbling, unusual gestures, diminished responsiveness, and vocal patterns that are not synchronized with the caregiver. In the second and third years, autistic children have less frequent and less diverse babbling, consonants, words, and word combinations; their gestures are less often integrated with words. Autistic children are less likely to make requests or share experiences, and are more likely to simply repeat others' words (echolalia) or reverse pronouns. Joint attention seems to be necessary for functional speech, and deficits in joint attention seem to distinguish infants with ASD for example, they may look at a pointing hand instead of the pointed-at object, and they consistently fail to point at objects in order to comment on or share an experience. Autistic children may have difficulty with imaginative play and with developing symbols into language.<br /> Repetitive behavior:<br /> Autistic individuals display many forms of repetitive or restricted behavior, which the Repetitive Behavior Scale-Revised (RBS-R) categorizes as follows.<br />Stereotypy is repetitive movement, such as hand flapping, making sounds, head rolling, or body rocking. <br />Compulsive behavior is intended and appears to follow rules, such as arranging objects in stacks or lines. <br />Sameness is resistance to change; for example, insisting that the furniture not be moved or refusing to be interrupted. <br />Ritualistic behavior involves an unvarying pattern of daily activities, such as an unchanging menu or a dressing ritual. This is closely associated with sameness and an independent validation has suggested combining the two factors. <br />Restricted behavior is limited in focus, interest, or activity, such as preoccupation with a single television program, toy, or game. <br />Self-injury includes movements that injure or can injure the person, such as eye poking, skin picking, hand biting, and head banging. A 2007 study reported that self-injury at some point affected about 30% of children with ASD. No single repetitive behavior seems to be specific to autism, but only autism appears to have an elevated pattern of occurrence and severity of these behaviors. <br />Other symptoms<br /> Autistic individuals may have symptoms that are independent of the diagnosis, but that can affect the individual or the family. An estimated 0.5% to 10% of individuals with ASD show unusual abilities, ranging from splinter skills such as the memorization of trivia to the extraordinarily rare talents of prodigious autistic savants. <br /> Many individuals with ASD show superior skills in perception and attention, relative to the general population. Sensory abnormalities are found in over 90% of those with autism, and are considered core features by some, although there is no good evidence that sensory symptoms differentiate autism from other developmental disorders. Differences are greater for under-responsivity (for example, walking into things) than for over-responsivity (for example, distress from loud noises) or for sensation seeking (for example, rhythmic movements).<br /> An estimated 60%–80% of autistic people have motor signs that include poor muscle tone, poor motor planning, and toe walking; ASD is not associated with severe motor disturbances. <br /> Unusual eating behavior occurs in about three-quarters of children with ASD, to the extent that it was formerly a diagnostic indicator. Selectivity is the most common problem, although eating rituals and food refusal also occur; this does not appear to result in malnutrition. Although some children with autism also have gastrointestinal (GI) symptoms, <br /> At some point in childhood, about two-thirds of individuals with ASD are affected by sleep problems; these most commonly include symptoms of insomnia such as difficulty in falling asleep, frequent nocturnal awakenings, and early morning awakenings. Sleep problems are associated with difficult behaviors and family stress, and are often a focus of clinical attention over and above the primary ASD diagnosis.<br /> CLASSIFICATION<br />Autism is one of the five pervasive developmental disorders (PDD), which are characterized by widespread abnormalities of social interactions and communication, and severely restricted interests and highly repetitive behavior. These symptoms do not imply sickness, fragility, or emotional disturbance.<br />The manifestations of autism cover a wide spectrum, ranging from individuals with severe impairments—who may be silent, mentally disabled, and locked into hand flapping and rocking—to high functioning individuals who may have active but distinctly odd social approaches, narrowly focused interests, and verbose, pedantic communication. Because the behavior spectrum is continuous, boundaries between diagnostic categories are necessarily somewhat arbitrary. Sometimes the syndrome is divided into low-, medium- or high-functioning autism (LFA, MFA, and HFA), based on IQ thresholds’ or on how much support the individual requires in daily life; these subdivisions are not standardized and are controversial.<br />Autism can also be divided into syndromal and non-syndromal autism; the syndromal autism is associated with severe or profound mental retardation or a congenital syndrome with physical symptoms, such as tuberous sclerosis. Although individuals with Asperger syndrome tend to perform better cognitively than those with autism, the extent of the overlap between Asperger syndrome, HFA, and non-syndromal autism is unclear.<br />Some studies have reported diagnoses of autism in children due to a loss of language or social skills, as opposed to a failure to make progress, typically from 15 to 30 months of age. The validity of this distinction remains controversial; it is possible that regressive autism is a specific subtype, or that there is a continuum of behaviors between autism with and without regression.<br />Classify autism using genetics as well as behavior, with the name Type 1 autism denoting rare autism cases that test positive for a mutation in the CNTNAP2 gene.<br /> MECHANISM<br /> Autism's symptoms result from maturation-related changes in various systems of the brain. Despite extensive investigation, how autism occurs is not well understood. Its mechanism can be divided into two areas: the pathophysiology of brain structures and processes associated with autism, and the neuropsychological linkages between brain structures and behaviors. The behaviors appear to have multiple pathophysiologies .<br /> PATHOPHYSIOLOGY<br /> Autism affects the amygdala, cerebellum, and many other parts of the brain. Unlike many other brain disorders such as Parkinson's, autism does not have a clear unifying mechanism at either the molecular, cellular, or systems level; it is not known whether autism is a few disorders caused by mutations converging on a few common molecular pathways, or is (like intellectual disability) a large set of disorders with diverse mechanisms. Autism appears to result from developmental factors that affect many or all functional brain systems, and to disturb the timing of brain development more than the final product. Neuroanatomical studies and the associations with teratogens strongly suggest that autism's mechanism includes alteration of brain development soon after conception. This anomaly appears to start a cascade of pathological events in the brain that are significantly influenced by environmental factors. Just after birth, the brain of an autistic child grows faster than usual, followed by normal or relatively slower growth in childhood. The early overgrowth seems to be most prominent in areas underlying the development of higher cognitive specialization. <br />Interactions between the immune system and the nervous system begin early during the embryonic stage of life, and successful neurodevelopment depends on a balanced immune response. Several symptoms consistent with a poorly regulated immune response have been reported in autistic children. It is possible that aberrant immune activity during critical periods of neurodevelopment is part of the mechanism of some forms of ASD. <br /> Several neurotransmitter abnormalities have been detected in autism, notably increased blood levels of serotonin. Whether these cause structural or behavioral abnormalities is unclear. Some data suggest an increase in several growth hormones; other data argue for diminished growth factors. Also, some inborn errors of metabolism are associated with autism but probably account for less than 5% of cases.<br /> The mirror neuron system (MNS) theory of autism hypothesizes that distortion in the development of the MNS interferes with imitation and leads to autism's core features of social impairment and communication difficulties. The MNS operates when an animal performs an action or observes another animal perform the same action. The MNS may contribute to an individual's understanding of other people by enabling the modeling of their behavior via embodied simulation of their actions, intentions, and emotions. However, individuals with autism also have abnormal brain activation in many circuits outside the MNS and the MNS theory does not explain the normal performance of autistic children on imitation tasks that involve a goal or object. <br />ASD-related patterns of low function and aberrant activation in the brain differ depending on whether the brain is doing social or nonsocial tasks. In autism there is evidence for reduced functional connectivity of the default network, a large-scale brain network involved in social and emotional processing, with intact connectivity of the task-positive network, used in sustained attention and goal-directed thinking. In people with autism the two networks are not negatively correlated in time, suggesting an imbalance in toggling between the two networks, possibly reflecting a disturbance of self-referential thought. A 2008 brain-imaging study found a specific pattern of signals in the cingulate cortex which differs in individuals with ASD. <br />NEUROPHYSIOLOGY<br />Two major categories of cognitive theories have been proposed about the links between autistic brains and behavior.<br />The first category focuses on deficits in social cognition. The empathizing–systemizing theory postulates that autistic individuals can systemize—that is, they can develop internal rules of operation to handle events inside the brain—but are less effective at empathizing by handling events generated by other agents. An extension, the extreme male brain theory, hypothesizes that autism is an extreme case of the male brain, defined psychometrically as individuals in whom systemizing is better than empathizing; this extension is controversial, as many studies contradict the idea that baby boys and girls respond differently to people and objects<br />The second category focuses on nonsocial or general processing. Executive dysfunction hypothesizes that autistic behavior results in part from deficits in working memory, planning, inhibition, and other forms of executive function. Tests of core executive processes such as eye movement tasks indicate improvement from late childhood to adolescence, but performance never reaches typical adult levels. A strength of the theory is predicting stereotyped behavior and narrow interests; two weaknesses are that executive function is hard to measure and that executive function deficits have not been found in young autistic children.<br />CAUSES AND RISK FACTORS<br />It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism's characteristic triad of symptoms. However, there is increasing suspicion that autism is instead a complex disorder whose core aspects have distinct causes that often co-occur. <br />Autism's theory of causation is still incomplete It has long been presumed that there is a common cause at the genetic, cognitive, and neural levels for autism's characteristic triad of symptoms. However, there is increasing suspicion among researchers that autism does not have a single cause, but is instead a complex disorder with a set of core aspects that have distinct causes. Although these distinct causes have been hypothesized to often co-occur it has also been suggested that the correlation between the causes has been exaggerated.<br /> <br />Genetics<br />Genetic factors are the most significant cause for autism spectrum disorders. <br />Deletion (1), duplication (2) and inversion (3) are all chromosome abnormalities that have been implicated in autism. <br />Autism has a strong genetic basis, although the genetics of autism are complex and it is unclear whether ASD is explained more by rare mutations with major effects, or by rare multigene interactions of common genetic variants. Complexity arises due to interactions among multiple genes, the environment, and epigenetic factors which do not change DNA but are heritable and influence gene expression. Typically, autism cannot be traced to a Mendelian (single-gene) mutation or to a single chromosome abnormality like fragile X syndrome, and none of the genetic syndromes associated with ASDs has been shown to selectively cause ASD. Numerous candidate genes have been located, with only small effects attributable to any particular gene. The large number of autistic individuals with unaffected family members may result from copy number variations—spontaneous deletions or duplications in genetic material during meiosis Hence, a substantial fraction of autism cases may be traceable to genetic causes that are highly heritable but not inherited: that is, the mutation that causes the autism is not present in the parental genome. <br />Environmental factorsA common hypothesis is that autism is caused by the interaction of a genetic predisposition and an early environmental insult. Several theories based on environmental factors have been proposed to address the remaining risk. Some of these theories focus on prenatal environmental factors, such as agents that cause birth defects; others focus on the environment after birth, such as children's diets.<br />Paternal Age: For autism include parental characteristics such as advanced maternal age and advanced paternal age. The risk is greater for advanced paternal age. One hypothesis is that this is caused by older sperm that have greater mutation burden; another is that men who carry more genetic liability have some features of autism and therefore marry and have children later. These two hypotheses are not mutually exclusive<br />Maternal infection: Prenatal viral infection has been called the principal non-genetic cause of autism. Prenatal exposure to rubella or cytomegalovirus activates the mother's immune response and greatly increases the risk for autism. Congenital rubella syndrome is the most convincing environmental cause. Infection-associated immunological events in early pregnancy may affect neural development more than infections in late pregnancy, not only for autism, but also for other psychiatric disorders of presumed neurodevelopmental origin, notably schizophrenia. <br />Gestational diabetes: Diabetes in the mother during pregnancy is a significant risk factor for autism. Although diabetes causes metabolic and hormonal abnormalities and oxidative stress, no biological mechanism is known for the association between gestational diabetes and autism risk. <br />Teratogens: These include exposure of the embryo to thalidomide, valproic acid, or misoprostol. These cases are rare. Questions have also been raised whether ethanol (grain alcohol) increases autism risk, as part of fetal alcohol syndrome or alcohol-related birth defects, but current evidence is insufficient to determine whether autism risk is actually elevated with ethanol . All known teratogens appear to act during the first eight weeks from conception, and though this does not exclude the possibility that autism can be initiated or affected later, it is strong evidence that autism arises very early in development. <br />Thyroid problems : Thyroid problems that lead to thyroxine deficiency in the mother in weeks 8–12 of pregnancy has been postulated to produce changes in the fetal brain leading to autism. Thyroxine deficiencies can be caused by inadequate iodine in the diet, and by environmental agents that interfere with iodine uptake or act against thyroid hormones. Possible environmental agents include flavonoids in food, tobacco smoke, and most herbicides. This hypothesis has not been tested. A related untested hypothesis is that exposure to pesticides could combine with suboptimal iodine nutrition in a pregnant mother and lead to autism in the child. <br />Folic acid: It has been hypothesized that folic acid taken during pregnancy could play a role in causing autism by modulating gene expression through epigenetic mechanism. This hypothesis is untested. <br /> HYPERLINK "http://en.wikipedia.org/wiki/Prenatal_stress" o "Prenatal stress" Prenatal stress: consisting of exposure to life events or environmental factors that distress an expectant mother, has been hypothesized to contribute to autism, possibly as part of a gene-environment interaction. Autism has been reported to be associated with prenatal stress both with retrospective studies that examined stressors such as job loss and family discord, and with natural experiments involving prenatal exposure to storms; animal studies have reported that prenatal stress can disrupt brain development and produce behaviors resembling symptoms of autism. <br />Fetal testosterone: The fetal testosterone theory hypothesizes that higher levels of testosterone in the amniotic fluid of mothers pushes brain development towards improved ability to see patterns and analyze complex systems while diminishing communication and empathy, emphasizing "male" traits over "female", <br />Ultrasound: A 2006 study found that sustained exposure of mouse embryos to ultrasound waves caused a small but statistically significant number of neurons to fail to acquire their proper position during neuronal migration.. It is highly unlikely that this result speaks directly to risks of fetal ultrasound as practiced in competent and responsible medical centers. There is no scientific evidence of an association between prenatal ultrasound exposure and autism, but there are very little data on human fetal exposure during diagnostic ultrasound, and the lack of recent epidemiological research and human data in the field has been called "appalling".<br />Perinatal environment: Autism is associated with some perinatal and obstetric conditions. A 2007 review of risk factors found associated obstetric conditions that included low birth weight and gestation duration, and hypoxia during childbirth. This association does not demonstrate a causal relationship; an underlying cause could explain both autism and these associated conditions. A 2007 study of premature infants found that those who survived cerebellar hemorrhagic injury (bleeding in the brain that injures the cerebellum) were significantly more likely to show symptoms of autism than controls without the injury. <br />Postnatal environment: A wide variety of postnatal contributors to autism have been proposed, including gastrointestinal or immune system abnormalities, allergies, and exposure of children to drugs, vaccines, infection, certain foods, or heavy metals. The evidence for these risk factors is anecdotal and has not been confirmed by reliable studies. The subject remains controversial and extensive further searches for environmental factors are underway. <br />Vaccines: Although there is no evidence that autism is caused by vaccines or any preservative or additive ever used in vaccines, many parents are concerned about the risks of vaccination due to various unsupported theories related to vaccines. For example, many parents delay or avoid immunizing their children under the "vaccine overload" hypothesis that giving many vaccines at once may overwhelm a child's immune system and lead to autism even though the hypothesis has no scientific evidence and is biologically implausible.. <br />Autoimmune disease: This theory hypothesizes that autoantibodies that target the brain may cause or exacerbate autism. It is related to the maternal antibodies theory, except that it postulates that the effect is caused by the individual's own antibodies, possibly due to an environmental trigger after birth. It is also related to several other hypothesized causes; for example, viral infection has been hypothesized to cause autism via an autoimmune mechanism. Interactions between the immune system and the nervous system begin early during embryogenesis, and successful neurodevelopment depends on a balanced immune response. Several symptoms consistent with a poorly regulated immune response have been reported in autistic children. It is possible that aberrant immune activity during critical periods of neurodevelopment is part of the mechanism of some forms of ASD. . <br /> Vitamin D; This theory hypothesizes that autism is caused by vitamin D deficiency, and that recent increases in diagnosed cases of autism are due to medical advice to avoid the sun. The theory has not been studied scientifically. <br />Lead: Lead poisoning has been suggested as a possible risk factor for autism, as the lead blood levels of autistic children has been reported to be significantly higher than typical. The atypical eating behaviors of autistic children, along with habitual mouthing and pica, make it hard to determine whether increased lead levels are a cause or a consequence of autism. <br />Mercury: This theory hypothesizes that autism is associated with mercury poisoning, based on perceived similarity of symptoms and reports of mercury or its biomarkers in some autistic children. The principal source of human exposure to organic mercury is via fish consumption and for inorganic mercury is dental amalgams. Other forms of exposure, such as in cosmetics and vaccines, also occur. The evidence so far is indirect for the association between autism and mercury exposure after birth, as no direct test has been reported, and there is no evidence of an association between autism and postnatal exposure to any neurotoxicant. <br /> Perhaps the best-known theory involving mercury and autism involves the use of the mercury-based compound thiomersal, a preservative that has been phased out from most childhood vaccinations in developed countries. Parents may first become aware of autistic symptoms in their child around the time of a routine vaccination. There is no scientific evidence for a causal connection between thiomersal and autism, but parental concern about the thiomersal controversy has led to decreasing rates of childhood immunizations and increasing likelihood of disease outbreaks. <br />MMR vaccine: The MMR vaccine theory of autism is one of the most extensively debated theories regarding the origins of autism. A disputed 1998 paper by Andrew Wakefield et al. reported a study of 12 children who had autism and bowel symptoms, in some cases reportedly with onset after MMR. Using separate, single vaccines in place of MMR is widely believed to put children at increased risk since the combined vaccine reduces the risk of them catching the diseases while they are waiting for full immunization cover. Numerous peer-reviewed studies have also since failed to show any association between MMR vaccine and autism. In 2009, the US Federal Vaccine Court rejected "speculative and unpersuasive" claims that the MMR vaccine caused autism. <br /> <br /> SCREENING<br /> About half of parents of children with ASD notice their child's unusual behaviors by age 18 months, and about four-fifths notice by age 24 months. As postponing treatment may affect long-term outcome, any of the following signs is reason to have a child evaluated by a specialist without delay:<br />No babbling by 12 months. <br />No gesturing (pointing, waving goodbye, etc.) by 12 months. <br />No single words by 16 months. <br />No two-word spontaneous phrases (other than instances of echolalia) by 24 months. <br />Any loss of any language or social skills, at any age<br /> Screening tools include the Modified Checklist for Autism in Toddlers (M-CHAT), the Early Screening of Autistic Traits Questionnaire, and the First Year Inventory; initial data on M-CHAT<br />DIAGNOSIS<br />Diagnosis is based on behavior, not cause or mechanism.<br />Diagnostic Criteria for 299.0 Autistic disorder;<br />from A total of six (or more) items (1), (2), and (3), with at least two from (1), and one each from (2), and (3):<br />(1) Qualitative impairment in social interaction, as manifested by at least two of the following:<br /> (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction<br /> (b) failure to develop peer relationships appropriate to developmental level<br /> (c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people <br /> (d) lack of social or emotional reciprocity<br /> (2) qualitative impairments in communication as manifested by at least one of the following:<br /> (a) delay in or total lack of, the development of spoken language <br /> (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others <br /> (c) stereotyped and repetitive use of language or idiosyncratic language<br /> (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level<br />(3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:<br /> (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity of focus<br /> (b) apparently inflexible adherence, to specific, nonfunctional routines or rituals<br /> (c) stereotyped and repetitive motor mannerisms<br /> (d) persistent preoccupation with parts of objects<br />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<br />C. The disturbance is not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder. <br /> <br />Clinical genetics evaluations are often done once ASD is diagnosed, particularly when other symptoms already suggest a genetic cause. Although genetic technology allows clinical geneticists to link an estimated 40% of cases to genetic causes,] consensus guidelines in the U.S. and UK are limited to high-resolution chromosome and fragile X testing. A genotype-first model of diagnosis has been proposed, which would routinely assess the genome's copy number variations. Metabolic and neuroimaging tests are sometimes helpful, but are not routine<br />Under diagnosis and over diagnosis are problems in marginal cases, and much of the recent increase in the number of reported ASD cases is likely due to changes in diagnostic practices. The increasing popularity of drug treatment options and the expansion of benefits have given providers incentives to diagnose ASD, resulting in some overdiagnosis of children with uncertain symptoms. Conversely, the cost of screening and diagnosis and the challenge of obtaining payment can inhibit or delay diagnosis. It is particularly hard to diagnose autism among the visually impaired, partly because some of its diagnostic criteria depend on vision, and partly because autistic symptoms overlap with those of common blindness syndromes. <br />MANAGEMENT<br />A three-year-old with autism points to fish in an aquarium, as part of an experiment on the effect of intensive shared-attention training on language development. <br />The main goals of treatment are to lessen associated deficits and family distress, and to increase quality of life and functional independence. No single treatment is best and treatment is typically tailored to the child's needs effectiveness of treatment options. <br />Available approaches include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy. Educational interventions have some effectiveness in children: performance of young children. Neuropsychological reports are often poorly communicated to educators, resulting in a gap between what a report recommends and what education is provided<br /> Many medications are used to treat ASD symptoms that interfere with integrating a child into home or school when behavioral treatment fails. More than half of U.S. children diagnosed with ASD are prescribed psychoactive drugs or anticonvulsants, with the most common drug classes being antidepressants, stimulants, and antipsychotics. Aside from antipsychotics, there is scant reliable research about the effectiveness or safety of drug treatments for adolescents and adults with ASD. A person with ASD may respond atypically to medications, the medications can have adverse effects, and no known medication relieves autism's core symptoms of social and communication impairments. <br />Although many alternative therapies and interventions are available, few are supported by scientific studies. Treatment approaches have little empirical support in quality-of-life contexts, and many programs focus on success measures that lack predictive validity and real-world relevance<br /> Treatment is expensive; indirect costs are more so. After childhood, key treatment issues include residential care, job training and placement, sexuality, social skills, and estate planning.<br />PROGNOSIS<br />There is no known cure. Children recover occasionally, so that they lose their diagnosis of ASD; this occurs sometimes after intensive treatment and sometimes not. It is not known how often recovery happens; A few autistic children have acquired speech at age 5 or older. Most children with autism lack social support, meaningful relationships, future employment opportunities or self-determination. Although core difficulties tend to persist, symptoms often become less severe with age.<br /> Few high-quality studies address long-term prognosis. Some adults show modest improvement in communication skills, but a few decline; no study has focused on autism after midlife Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes; independent living is unlikely with severe autism, sheltered or part-time work. Changes in diagnostic practice and increased availability of effective early intervention make it unclear whether these findings can be generalized to recently diagnosed children. <br />DIFFERENTIAL DIAGNOSIS<br /> Autism is a condition involving abnormalities of brain development and behavior which manifests itself before a child is three years old and has a steady course with no remission. It is characterized by impairments in social interaction and communication, as well as restricted and repetitive behavior. It is part of a larger family called the autism spectrum disorders (ASD) or pervasive developmental disorders (PDD), which include closely related syndromes such as Asperger syndrome and PDD-NOS. This article uses autism to denote the classic autistic disorder and ASD to denote the wider family.<br /> METHODOLOGY<br /> <br /> Study Design : Hospital based DESCRIPTIVE Study<br /> <br /> Study Setting : ICCONS, Pattom & CDC, SATH, <br /> Trivandrum<br /> <br />Study Period : 2 months November & December 2009<br />Study Population : Autistic Patients who were confirmed….attending ICCONS & CDC during the study period.<br />Data Collection : Patients were interviewed using a semi structured interview schedule.<br />Inclusion Criteria : All autistic children attending ICCONS during our study period<br /> <br /> Exclusion Criteria : Those who are not willing to <br /> participate in study<br />IMPLEMENTATION<br /> PERMISSION: After obtaining consent from our HOD and guide we approached The Director of ICCONS & The Director of CDC for their permission to conduct our study in their Departments.<br /> ETHICAL CONSIDERATION: After receiving informed consent, the subjects were interviewed based on an appropriate Interview schedule.<br /> PRELIMINARY PILOT INTERVIEW<br /> INTERVIEWING OF CASES<br /> STATISTICAL ANALYSIS <br />RESULTS <br /> During our study period, we came across the lives of 30 Autistic children. The results of our study were;<br /> <br /> SOCIODEMOGRAPHIC FACTORS<br />1. AGE<br />Table no.1 Age of onset of Autism in different age group.<br />
According to our study 36.7% of the cases were found to have O blood group.
5. Rh GROUP<br /> Table no. 5 showing Rh group of autistic children<br />Rh GROUPFREQUENCY%Positive30100Negative00Total30100<br /> <br />According to our study 100% of the cases were found to be Rh positive<br /> 6. RELIGION<br />Table no.6 Religion-wise distribution of cases.<br />RELIGIONFREQUENCY%Hindu1963.3Christian620Islam516.7Total30100<br /> <br />According to our study 63.3% of the cases were hindus.<br /> 7. RESIDENCE<br /> <br />Table no. 7 Residence-wise distribution of cases.<br />PLACEFREQUENCY%Urban2170Rural516.3Costal413.3Total30100<br /> <br />According to our study 70% of the cases were from urban areas.<br /> 8. SOCIO ECONOMIC STATUS<br />Table no.8 Socioeconomic status-wise distribution of cases.<br />SOCIOECONOMIC STATUSFREQUENCY%APL2376.7BPL723.3TOTAL30100<br /> <br /> <br />According to our study 76.7% of the cases were from above poverty line background.<br /> 9. TYPE OF FAMILY<br />Table no. 9 The type of family.<br />TYPE OF FAMILYFREQUENCY%NUCLEAR2066.7EXTENDED620JOINT413.3TOTAL30100<br /> <br />According to our study 66.7% of the cases were from nuclear family. 10. AGE AT CONCEPTION<br />Table no. 10 The age at conception of the autistic child.<br />AGEFREQUENCY%MOTHER > 30 YRS00FATHER> 30 YRS1033.3MOTHER & FATHER> 30YRS1136.7MOTHER & FATHER < 30YRS930TOTAL30100<br /> <br />According to our study 36.7% of the cases were conceived when both mother and father were above 30 years of age, and 33.3% when father alone was more than 30 years of age.<br /> 11. ORDER OF THE CHILD IN FAMILY<br />Table no. 11 Order of the child in the family.<br />ORDERFREQUENCY%118602826.73413.3TOTAL30100<br /> <br />According to our study 60% of the cases were first born.<br /> PATERNAL FACTORS<br /> <br /> 1. ABO blood group.<br />Table no. 1 ABO blood group of father.<br />ABO BLOOD GROUPFREQUENCY%A620B723.3AB620O1136.7TOTAL30100<br />According to our study 36.7 % of the cases had fathers with O blood group.<br /> 2. Rh GROUP<br />Table no. 2 Rh group of father.<br />Rh GROUPFREQUENCY%POSITIVE30100NEGATIVE00TOTAL30100<br />971550349250 <br /> <br /> <br /> <br /> <br />According to our study 100% of the cases had fathers with Rh positive blood group.<br /> 3. EDUCATION<br />Table no. 3 Educational qualification of father.<br />EDUCATIONFREQUENCY%PRIMARY13.3SECONDARY723.3HIGHER SECONDARY310.0DEGREE1240.0PROFESSIONAL723.3TOTAL30100<br />10795004071620<br /> <br />According to our study 40% of the cases had fathers with degree qualification.<br /> 4. OCCUPATION<br />Table no. 4 Occupation of father.<br />OCCUPATIONFREQUENCY%UNSKILLED723.3SEMISKILLED620SKILLED1033.3PROFESSIONAL723.3TOTAL30100<br /> <br /> According to our study 33.3% of the cases had fathers who were involved in skilled jobs.<br /> 5. ADDICTION.<br />Table no. 5 Addictions in father.<br />ADDICTIONFREQUENCY%NO ADDICTIONS2170SMOKING516.7ALCOHOL413.3TOTAL30100<br />centercenter<br />According to our study 70% of the cases had fathers without any addictions.<br /> MATERNAL FACTORS<br /> 1. ABO BLOOD GROUP<br />Table no. 1 ABO blood group of mother.<br />
According to our study 100% of the cases had mothers who were Rh positive.<br /> 3. EDUCATION<br />Table no. 3 Educational qualification of mother.<br />EDUCATIONFREQUENCY%PRIMARY26.7SECONDARY516.7HIGHER SECONDARY516.7DEGREE1343.3PROFESSIONAL516.7TOTAL30100<br /> <br /> <br />According to our study 43.3 % of the cases had mothers with degree qualification.<br /> 4. OCCUPATION<br />Table no. 4 Occupation of mother.<br />OCCUPATIONFREQUENCY%HOMEMAKER1653.3SEMISKILLED26.7SKILLED826.7PROFESSIONAL413.3TOTAL30100<br /> <br />centercenter<br />According to our study 53.3% of the cases had mothers who were homemakers.<br /> 5. INCREASED RATES OF TESTOSTERONE RELATED DISORDERS<br />Table no. 5 Increased rates of testosterone related disorders in mother.<br />TESTOSTERONE RELATED DISORDERSFREQUENCY%ABSENT1446.7PRESENT1653.3TOTAL30100<br /> According to our study 53.3 % of the cases had mothers who showed elevated rates of testosterone related disorders like hirsuitism, irregular menstrual cycle, dysmenorrhea, and low 2D:4D ratio (ratio of 2nd finger to the 4th finger).<br /> 6. THYROID ABNORMALITIES<br />Table no.6 Thyroid abnormalities in mother.<br />THYROID ABNORMALITIESFREQUENCY%ABSENT2273.3PRESENT826.7TOTAL30100<br />centercenter<br />According to our study only 26.7% of the cases had mothers with abnormalities in thyroid function.<br /> 7. CONSANGUINOUS MARRIAGE<br />Table no. 7 Consanguinous marriage .<br />CONSANGUINITY OF MARRIAGEFREQUENCY%NO2480YES620TOTAL30100<br /> <br />According to our study 20% of the cases had parents with consanguinity of marriage.<br /> 8. USE OF CONTRACEPTIVES<br />Table no. 8 Use of contraceptives.<br />USE OF CONTRACEPTIVESFREQUENCY%NO2583.3YES516.7TOTAL30100<br />According to our study 16.7% of the cases had parents who had used contraceptive measures.<br /> <br /> 9. INFERTILITYTable no. 9 Infertility in parents.<br />INFERTILITYFREQUENCY%NO2376.7IN MOTHER26.7IN FATHER516.6TOTAL30100<br />677772500829According to our study there was no history of infertility in 76.7% of the cases, 6.7% cases had mothers with history of infertility and 16.6% cases had fathers with history of infertility.<br /> 10. SPACING BETWEEN PREGNANCIES.<br />Table no. 10 Spacing between pregnancies.<br />PREGNANCY SPACINGFREQUENCY%1ST CHILD1860.0< 1 YEARS930.0>1YEARS310.0TOTAL30100<br /> <br /> <br />According to our study 60% of the cases were 1st born, 30% of the cases were born within 1 year of a previous child birth, 10% of cases were born after 1 year of a previous child birth.<br /> FAMILY HISTORY<br />
According to our study 40% of cases had no siblings, 10% of cases had autistic siblings, and 50% of cases had normal siblings.<br /> <br />
HISTORY OF PSYCHIATRIC DISEASE IN THE FAMILY
Table no.2 History of psychiatric disease in the family.<br />PSYCHIATRIC DISEASEFREQUENCY%NO2893.3YES26.7TOTAL30100<br /> <br />According to our study 6.7% of cases had family history of psychiatric diseases.<br /> <br />
HISTORY OF AUTOIMMUNE DISEASE IN THE FAMILY
Table no. 3 History of autoimmune disease in the family.<br />AUTOIMMUNEDISEASEFREQUENCY%NO413.3YES2686.7TOTAL30100<br /> According to our study 86.7% of the cases had family history of autoimmune disease like type1 DM, adult rheumatoid arthritis, hypothyroidism.<br /> ANTENATAL FACTORS<br />
HISTORY OF PHYSICAL COMPLAINTS.
Table no.1 History of physical complaints in mother.<br />PHYSICAL COMPLAINTSFREQUENCY%NO2066.7CHRONIC FATIGUE930ARTHRITIS13.3TOTAL30100<br /> <br />According to our study during pregnancy with 66.7% of the cases their mothers had no history of physical complaints, 30% had history of chronic fatigue, and 3.3% had history of arthritis.<br />
HISTORY OF UTI
Table no. 2 History of UTI.<br />
<br /> <br />According to our study during pregnancy of16.7% of the cases their mothers had history of urinary tract infection.<br />3. COMPLICATED PREGNANCY<br />Table no. 3 History of complication during pregnancy.<br />
According to our study, 93.3% of the cases had cephalic presentation, and 6.7% of the cases had breech presentation.<br />
HISTORY OF ANY USG ABNORMALITY
Table no.5 History of any USG abnormality.<br />
USG ABNORMALITYFREQUENCY%NO2686.7SMALL FOR GESTATIONAL AGE13.3LARGE FOR GESTATIONAL AGE310TOTAL30100
According to our study, 86.7% cases showed no abnormalities in ultrasound scan taken during pregnancy, 3.3% of the cases were small for gestational age, and 10% of the cases were large for gestational age.<br />
TYPE OF DELIVERY
Table no. 6 Type of delivery.<br />
DELIVERYFREQUENCY%NORMAL2170CS* DUE TO PREVIOUS CS*26.7CS* DUE TO FAILURE TO PROGRESS OF LABOUR413.3CS* DUE TO FOETAL DISTRESS310TOTAL30100
*CS- caesarean section
<br />According to our study, 86.7% of the cases were delivered vaginally(normal delivery), 6.7% of the cases were delivered by caesarean section because of previous CS, 13.3% of cases were delivered by CS due to failure to progress of labour, 10% of cases were delivered by CS due to foetal distress.<br />
According to our study, 23.3% of the cases were bottle fed with cow’s milk at 6 months of age, 76.7% of the cases were bottle fed with powder milk at 6 months of age.<br /> 3. WERE MILESTONES ACHIEVED NORMALLY?<br />Table no. 3 Milestone achievement.<br />MILESTONESFREQUENCY%NO930YES2170TOTAL30100<br />MILESTONES – 1. SOCIAL INTERACTION; 2. LANGUAGE AS USED IN SOCIAL COMMUNICATION; 3. SYMBOLIC OR IMAGINATIVE PLAY.<br /> <br />According to our study, 30% of the cases had delayed achievement of milestones.<br />
4. HISTORY OF EPILEPSY
Table no.4 History of epilepsy.<br />EPILEPSYFREQUENCY%NO1963.3YES1136.7TOTAL30100<br /> <br />According to our study, 36.7% of the cases have associated epilepsy.<br /> <br /> Limitations of the study<br />
OP days in ICCONS were only on Thursdays so we got only limited time for collection of data.
We had a very short time period of two months do the survey which was not sufficient to conduct a detailed study on this topic. Moreover the prevalence of autism in community is very low. Hence we had to limit the sample size to 30.
In certain cases, we were not able to get answers to our questions directly from the parents of the autistic children but were able to collect it only from grandparents who accompanied the kids.
We should increase the awareness about this condition among parents.
Early detection and proper intervention before the age of two years.
Encourage active interaction in the family.
Planning pregnancy at the optimal age.
Discussion <br />
The present study was undertaken with a view to find the profile of autistic patients. 30 cases were studied over a period of two months ( November- December, 2009). In all those cases relevant information were gathered by questioning the guardian of the autistic children and the following conclusion were arrived at.
SOCIODEMOGRAPHIC FACTORS<br />
The mean age of onset of autism was found to be 2.57 years. Various studies have shown that overt symptoms of autism gradually begin after the age of six months, become established by 2 or 3 years of age, and tend to continue through adulthood, although often in more muted form.
Out of the 30 cases 60% were males. THE EXTREME MALE BRAIN THEORY hypothesizes that autism is an extreme case of male brain, defined psychometrically as individuals in whom systemizing is better than empathizing.
36.7% of the autistic children were born during the months of October to December.
36.7% of the autistic children were found to have O blood group.
100% of the cases were found to be Rh positive.
63.3% of the cases were Hindus.
70% of the cases were from urban areas.
76.7 % of the cases were from above poverty line background.
66.7% of the cases were from nuclear family.
36.7% of the cases were conceived when both mother and father were above 30 years of age and 33.3 % cases were conceived when father alone was above 30 years of age. So out of 30 cases, 21 cases were conceived when their father was above 30 years of age. Women and men greater than 30 years of age have been found to be statistically related to an increased risk of autism. (reference- prenatal and Perinatal factors in autism by Kristin cobos)
60% of the cases were first born.
PATERNAL FACTORS<br />
36.7 % of the cases had fathers with O blood group.
100% of the cases had fathers with Rh positive blood group.
40% of the cases had fathers with degree qualification.
33.3% of the cases had fathers who were involved in skilled jobs.
70% of the cases had fathers without any addictions
MATERNAL FACTORS<br />
43.3% of the cases had mothers with B blood group.
100% of the cases had mothers who were Rh positive.
43.3 % of the cases had mothers with degree qualification.
53.3% of the cases had mothers who were homemakers.
53.3 % of the cases had mothers who showed elevated rates of testosterone related disorders like hirsuitism, irregular menstrual cycle, dysmenorrhea, low 2D:4D ratio(ratio of 2nd finger to the 4th finger).
26.7% of the cases had mothers with abnormalities in thyroid function.
MARRIAGE HISTORY<br />
20% of the cases had parents with consanguinity of marriage.
16.7% of the cases had parents who had used contraceptive measures.
There was no history of infertility in 76.7% of the cases, 6.7% cases had mothers with history of infertility and 16.6% cases had fathers with history of infertility.
60% of the cases were 1st born, 30% of the cases were born within 1 year of a previous child birth, 10% of cases were born after 1 year of a previous child birth
FAMILY HISTORY<br />
40% of cases had no siblings,
10% of cases had autistic siblings, and 50% of cases had normal siblings.
6.7% of cases had family history of psychiatric diseases.
86.7% of the cases had family history of autoimmune disease like type1 DM, adult rheumatoid arthritis, hypothyroidism.
ANTENATAL FACTORS<br />
During pregnancy with 66.7% of the cases their mothers had no history of physical complaints, 30% had history of chronic fatigue, and 3.3% had history of arthritis.
During pregnancy of16.7% of the cases their mothers had history of urinary tract infection.
50% of the pregnancies with the cases were complicated.
93.3% of the cases had cephalic presentation, and 6.7% of the cases had breech presentation.
86.7% cases showed no abnormalities in ultrasound scan taken during pregnancy, 3.3% of the cases were small for gestational age, 10% of the cases were large for gestational age.
PERINATAL FACTORS<br />
86.7% of the cases were delivered vaginally(normal delivery), 6.7% of the cases were delivered by caesarean section because of previous CS, 13.3% of cases were delivered by CS due to failure to progress of labour, 10% of cases were delivered by CS due to foetal distress.
10% of the cases were preterm babies, 90% of the cases were term babies.
6.7% of the cases were low birth weight babies, 93.3% of the cases were normal healthy babies.
POSTNATAL FACTORS<br />
23.3% of the cases were bottle fed with cow’s milk at 6 months of age, 76.7% of the cases were bottle fed with powder milk at 6 months of age.All the cases were breast fed till at least 6months of age.
30% of the cases had delayed achievement of milestones.
36.7% of the cases have associated epilepsy.
Studying the profile of autism is an extremely difficult task largely because of the sheer individuality and the number of factors involved. Both genetic and non genetic environments have been studied. Methodological differences, changes in diagnostic criteria, data compilation, analysis and reporting errors, misclassification and misdiagnosis of the disorder, reproductive risk factors and socioeconomic factors all have been associated with autism. Right now the interaction among all of these variables can appear to differ in each situation and case of autism and elude the scope of current research.
In our study, the mean age of onset of autism was found to be 2.57 years and the 60% of the cases were males.100% of the cases was found to be Rh positive. 36.7% of the cases were conceived when both mother and father were above 30 years of age and 33.3 % cases were conceived when father alone was above 30 years of age. So out of 30 cases, 21 cases were conceived when their father was above 30 years of age. 53.3 % of the cases had mothers who showed elevated rates of testosterone related disorders like hirsuitism, irregular menstrual cycle, dysmenorrhea, low 2D:4D ratio (ratio of 2nd finger to the 4th finger).26.7% of the cases had mothers with abnormalities in thyroid function. 86.7% of the cases had family history of autoimmune disease like type1 DM, adult rheumatoid arthritis, hypothyroidism. 50% of the pregnancies with the cases were complicated. 23.3% of the cases were bottle fed with cow’s milk at 6 months of age, 76.7% of the cases were bottle fed with powder milk at 6 months of age. All the cases were breast fed till at least 6months of age.30% of the cases had delayed achievement of milestones.36.7% of the cases have associated epilepsy.
BIBLIOGRAPHY<br />Centre for disease control and prevention of autism Spectrum disorders – autism and developmental Disabilities monitoring network.<br /> American psychiatric association – Diagnostic and <br />statistical manual of mental disorders, fourth edition, text revision <br /> Park Textbook of Social and Preventive medicine<br /> AAC Autism Expert Panel<br /> Kanner L : Autistic disturbances of affective<br /> content <br /> Contents Features SCIENTIFIC AMERICAN India <br /> November 2006 volume 1<br /> INTERNET<br /> www. Mdconsultant<br /> www. Pubmed.com<br />