Indian Journal of Pediatrics, Volume 72—March, 2005 227

Original Article

Correspondence and Reprint requests : Dr. Prof Veena Kalra, Head,Department of Pediatrics, All India Institute of Medical Sciences,New Delhi-110029. Fax: +91-11-26588641, 26588663

Abstract. Pervasive developmental disorders (PDD) or Autistic Spectrum Disorders (ASD) include Autistic Disorder(commonest), Asperger’s syndrome, Childhood Disintegrative Disorders, Rett’s syndrome and PDD –NOS (not otherwisespecified). Objective: Autism is an important cause of social disability and reported more often from the developed world thanfrom the developing countries. The present study was aimed to establish the diagnosis of autism amongst children withderangements of language, communication and behavior; ascertain and treat the co-morbidities; identify underlying cause andcreate a sensitivity and awareness among various health care professionals. Methods: Sixty-two of the seventy-five referredpatients fulfilled the DSM-IV (Diagnostic and Statistical Manual of Mental Disorder) criteria for autism. Evaluation included adetailed history, clinical examination, IQ assessment, Connor’s scoring for hyperactivity and Fragile-X screening. Managementof co-morbidities was done. A follow up of these patients was done. Parents’ assessment of the child was also done. A registryfor autistic children was established at the Department of Pediatrics with other major institutions of Delhi. Results : The male:female ratio was 8:1 and missed diagnosis was common. Professional awareness is merited. Behavioral modification by earlyintervention and stimulation improved the core symptoms of autism. Important co-morbidities included mental retardation (95%),hyperactivity (53%) and seizures (10%) cases. Control of co-morbidities in these children facilitated child’s periodic assessmentand implementation of intervention programmes. In the registry initiated 62 patients were enrolled at AIIMS and 6 were identifiedfrom other hospitals. Conclusion: Autism does occur in Indian children too. Diagnosis is often missed. Capacity building amonghealth professionals by a more structured teaching of developmental disabilities in the medical curriculum is required. The needto attend to co- morbidities and associated symptoms was clear. The initiation of the registry and beginning of networking wasimportant. [Indian J Pediatr 2005; 72 (3) : 227-230] E-mail : Kalra_veena@hotmail.com

Key words: Autism; Autistic spectrum disorders (ASD); Pervasive developmental disorders (PDD); Networking; Co-morbidities

Autism - Experiences in a Tertiary Care Hospital

Veena Kalra, Rachna Seth and Savita Sapra

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Autism, the commonest and severest form of pervasivedevelopmental disorders (PDD) is an important cause ofneuromorbidity and referral to tertiary hospitals. It ischaracterized by alterations of social interaction, problemsof communication and restricted range of activities andinterests.1-3 There is wide variability in the prevalence datafrom the West.4-7 The reasons for the variability includelack of recognition of the disorder, errors in diagnosis andlack of ability to distinguish it from disorders that mimicautism. The studies point to the fact that diagnosticcriteria need to be applied to avoid misdiagnosis.

The objectives of the present study were to establish adiagnosis of autism amongst children with derangementsof language, communication and behavior; ascertain andtreat the co-morbidities; identify underlying cause andcreate a sensitivity and awareness among various healthprofessionals.

MATERIAL AND METHODS

SubjectsSeventeen hundred new children enrolled and 3920children already registered came for follow up to the

Pediatric Neurology Clinic in the past one year. Of these75 patients were referred to the clinic with theconglomerate of following complaints- poor languagedevelopment, regression in the isolated domain oflanguage, abnormal behavior, attention deficit, mentalsubnormality or that the child was different from rest ofthe children of similar age groups. They were screened forautistic features according to the DSM IV Criteria forautism.

A proforma for evaluating such patients was designedbased on clinical profile and DSM IV criteria. Childrenmeeting the DSM IV criteria were subject to a detailedwork up comprising evaluation of perinatal events anddevelopmental milestones, cause of referral, details ofbirth order, family structure, history of similar illness inthe family and presence of co-morbidities. History ofseizures was enquired into. Stigmata of TuberousSclerosis were looked for. A formal DevelopmentQuotient (DQ) / Intelligence Quotient (IQ) / SocialQuotient (SQ) was done according to the Stanford BinetIntelligence Scale or Vineland Social Maturity Scale.Connor’s scale was used to evaluate hyperactivity.Hearing assessment was done in all using BrainstemEvoked Response Audiometry (BERA). Fragile-X screenwas done where consent was available.

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Interventions

An understanding of the fundamental difficulties facedby autistic children were crucial to develop a curriculumand teaching programme for the child. The parents andother family members were educated about the disorder.Each child was observed carefully and intervention in theform of early intervention and stimulation was plannedaccording to the needs and behavior of the child. TheAutism Treatment Evaluation Checklist (ATEC) was usedto measure the baseline and follow up status in autisticchildren in the domains of speech/language/communication, sociability, sensory/cognitive awarenessand health/physical/behavior. An IQ assessment wasdone, behavioral therapy and individualized educationaltraining was initiated. Problematic behavior wasmodified by positive reinforcement i.e. the desiredbehavior was acknowledged with some reward orreinforcement to increase the frequency of desiredbehavior. Other behavior techniques used included‘prompt’ (giving a visual, auditory or tactile clues to helpa child complete an activity); ‘fading’ (graduallywithdrawing a prompt); ‘modeling’ (becoming a model infront of the child so that the child observes the skill) and‘chaining’ (teaching a behavior or skill by breaking downto the smallest steps so that the child can handle thebehavior). Management of the co- morbidities of autismlike seizures, hyperactivity and mental retardation wasdone. Speech therapy was given to all children. A registryfor autistic children was initiated at AIIMS, whichcirculated the diagnostic criteria among five partnerinstitutions from Delhi. These patients were followed intheir parent institutions and notified at the AIIMS registry(e-mail address -autismAIIMS@hotmail.com). Theregistry is functional and six patients of autism have beennotified from Kalawati Saran Hospital.

Follow up

These children were followed up regularly at frequentintervals of 4-6 weeks both by the pediatrician and childpsychologist. Parameters during follow up includedenquiry into the parents’ assessment of the child as awhole, level of hyperactivity (repeat Connor’s scoringwas done at intervals of 3-6 months) after behavioral andpharmacological intervention. Seizure frequency wereenquired into and antiepileptics dose modification done ifneeded. Details in change of social interaction,communication, activities, interests was enquired into.ATEC was used to assess the improvements made in theindividual domains of speech/language/communication,sociability, sensory/cognitive awareness and health/physical/behavior every 6 months.

RESULTS

Of the 75 referrals 62 fulfilled the DSM IV criteria forautism. Majority (50%, n=31) of children were referred forlanguage delay or regression in language. (30%, n=20)

had deviation from the normal pattern of development orbehavior. Additional (20%, n=12) were referred forAttention Deficit Hyperactivity Disorder (ADHD) /Mental Retardation (MR) /problems in school.

The male: female ratio was 8:1.The mean age ofpresentation and diagnosis at AIIMS was as follows: [<3yr 15% (n=9), 3-6 yr 78%(n=49) and >6yr 7%(n=4)].Majority were diagnosed between 3 –6 years of age. Noadverse perinatal event was identified in any of thepatient. In the present cohort of autistic children 30children were living in nuclear families.

Based on the DSM IV criteria for diagnosis of autism asimple questionnaire was designed and identified themain presenting features in the present cohort of patients(Table 1).

TABLE 1. Main Presenting Features Observed in Autistic Patients atAIIMS

Feature Percentage %

Social InteractionPoor eye contact 90%Prefers to be alone 80%Problems in communication/languageSpeech delay 70%Pretends to be deaf 85%Repetitive behavior/apparent obsessionsStereotyped behavior 60%Extreme restlessness/hyperactivity 60%

The mean baseline scores as observed in the ATECwere: in speech/language/communication domain thebaseline score was 24-26, in the domain of socialinteraction the score was 34-36 and in the domain ofcognition awareness and physical behavior the baselinescores were 34-36 and 42-44 respectively.

IQ assessment was done in 93% (n=56) cases. Mild tomoderate mental retardation (IQ between 31-70) waspresent in 63% (n=35) cases; borderline intelligence (IQbetween 71-89) was present in 32%(n=18) cases and 3children had normal intelligence. Of these 5 children aregoing to special schools.

Hyperactivity assessed by Connor’s rating scale was>12 in 53% (n=32) patients. Drug used to control ofhyperactivity was Thioridazine (n=30 patients, 0.5-2mg/kg/day) or Methylphenidate (n=2 patients: 0.3-1 mg/kg/day) besides behavioral therapy. Thioridazine was usedin patients with co-existing mental subnormality.

Seizures were present in 10% (n=6) of patients andwere generalized in nature. They were easy to controlwith first line antiepileptics (Phenytoin, 5-6 mg/kg/dayin single doses or sodium valproate 10-25mg/kg/day)except in one case where Clobazam (1mg/kg/day ) wasused.

Hearing assessment was done using BERA and wasfound to be normal in all except one who had unilateralmild hearing loss. Fragile-X testing was done in 30%

Autism–Experiences in a Tertiary Care Hospital

Indian Journal of Pediatrics, Volume 72—March, 2005 229

(n=20) cases and was negative in all. None of the patientshad any stigmata of Tuberous Sclerosis, Down’ssyndrome or other dysmorphisms.

Parent education of the disorder was done and attemptwas made to empower families, this allowed them tocontinue to teach their child, improved the child’scompliance and decreased stress within the family.Patients were re-evaluated for parental perception of thechild’s ability, behavior and core symptoms by asymptom based questionnaire every two weeks. ATECwas used to assess the progress of the child every sixmonths. The mean follow up scores observed on ATECwere. In speech/language/ communication domain thefollow up score decreased to 20-24, in the domain of socialinteraction the score decreased to 26-28 and in thedomains of cognition awareness and physical behaviorthe follow up scores were 28-30 and 30-32 respectively.

The study is still ongoing. Repeat Connor’s scoringwas done after 3-6 months after initiation of measures toreduce hyperactivity. The present study preliminary datarevealed an improvement in hyperactivity in 60% cases (n=19) as evident by reduction in the Connor’s score from>12 to 8.This facilitated the child’s periodic assessmentand implementation of intervention programmes. Drugcompliance was good and no side effects to antipeilptics,thioridazine or methylphenidate were noted.

DISCUSSION

Preliminary analysis of the data revealed a malepreponderance, majority being diagnosed between 3-6years of age. Mental subnormality was present in 95%,hyperactivity in 53% and seizures in 10% of autisticchildren. Epidemiological studies reveal a wide variationin the prevalence rates for autism. Various studiesbetween 1966-1990 placed the prevalence of autismaround 4.3/10,000. Subsequent studies have placed theoccurrence of autism at the rate of 1/500-1/1000 people.4-7

According to WHO reports it is 1 out of 10,000. If allshades (spectrum disorders) of autism are included it ismore like 1 out of 1000. Such estimates require anappropriate set of criteria, which should be based onadequate standards of the population to be screened. InIndia a proper survey to find out the incidence of thedisease is yet to be done.

The present study in concordance with literaturerevealed a male preponderance with a higher male:female ratio of 8:1. This could be related to the smallnumber of female children either being referred orbrought to tertiary institutes. Literature reveals that thedisorder occurs in boys 3-4 times more often than in girls.8

The male preponderance of the disorder could be relatedto the X- chromosome.

In the present study, 20 families with an autistic childdid not consider having another child for fear of havinganother autistic child. Parental guilt may havecontributed. In 10 families a normal child was born after

an autistic child. In the present sample population nofamily had two autistic children. The risk of an autistic sibbirth after one autistic child is between 1.5-20%; muchgreater than the population prevalence of 0.1%.9

Environmental factors also influence the autismphenotype indicating a multidimensional etiologyincluding Congenital Rubella and Autism, AutisticSpectrum Disorders (ASD) and Ist trimester Thalidomideexposure, MMR and increased risk for ASD.10,11

Neurologic basis of the disease is supported by theassociation of ASD with seizures and mental retardation.

The age at referral to AIIMS and confirmation ofdiagnosis was late as 78% cases presented between 3-6years of age indicating lack of awareness and knowledgeabout the disorder leading to delay in initiating earlyintervention programmes. Studies12 have shown that thediagnosis is often delayed until mid childhood althoughretrospective reports suggest that most parents identifythe onset of first symptoms by 18 months of age. Thisclearly points out the need for professional orientation.7

Tuberous Sclerosis complex has been stronglyassociated with autism. However, none of our identifiedautistic children had features of Tuberous Sclerosis.Various studies have shown that 17% - >60% patients ofTuberous Sclerosis complex are autistic. This associationincreases if there are coexisting mental retardation andseizures. Conversely the number of autistic individualswith Tuberous Sclerosis complex varies from 0.4-3% invarious epidemiological studies. This association alsoincreases to about 8-14% in presence of seizures.13

The reported association of autism and Fragile X ishighly variable. Early reports reported a strongassociation between fragile X and autism upto 25% insome studies. Other studies have shown the association tobe as less as 3-7%.14 In some studies no Fragile X wasfound using cytogenetic techniques. In the present studyFragile X was done in 30 % patients and was negative inall.

The coexistence of autism and Down's syndrome is 2%.The present cohort did not show similar association.

Mental subnormality is present in 70 % autisticchildren.15 In the present study 63% cases had mild tomoderate mental retardation and 35% cases hadborderline intelligence.

In the present cohort, seizures were present in 10% ofautistic children. Two peaks of seizures observed in thesechildren are in early childhood and again atadolescence.1,16 Mental retardation, with or without motorabnormalities and family history of epilepsy aresignificant risk factors for the development of seizures inautistic children. Seizures most commonly observed inthese children are Complex Partial Seizures andpsychologists and psychiatrists may often miss thepresence of seizures as the seizure occurrence may belabeled as an unusual behavior of autism. Seizures couldcontribute to the regression seen in some children withautism15 Landau Kleffner syndrome (acquired epileptic

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aphasia) is characterized by language regression and maybe confused with regressive autism. However, EEG helpsto differentiate between the two.

It is concluded that autism is a frequently missedneurobehavioral disorder as there is tremendous lack ofawareness and knowledge about the disorder amonghealth professionals. In the past one year we followed 62patients of autism and there was either a doubt indiagnosis or misdiagnosis in all. Often the treatingphysician was afraid to label the child as autistic.Diagnosis is based on history, developmental status, corebehavior pattern and by observation in several settings.Autism does not meet the criteria for screening butsurveillance through preschool years by parent-professional partnership is recommended. Six cardinalfeatures, most frequently reported by families, shouldalert the treating physician. These include poor eyecontact, child’s preference to be alone, speech delay ortotal lack of speech, pretends to be deaf, repetitivestereotyped behavior or exhibits extreme restlessness /hyperactivity. Limitation of the study was nonavailabilityof CARS data. The initiation of a registry and beginning ofnetworking were important. Scientifically conductedtherapy trials to attend to co-morbidities and associatedsymptoms were clear in this pilot study. Benefits afterpharmacological and behavioral intervention needs to betried in larger multicentric cohorts.

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