Atopic features in early childhood autism

BACKGROUND: Autism is a developmental disorder of unknown etiology. Sensitivity to dietary and environmental antigens has been considered in its pathogenesis. AIM: To examine immediate hypersensitivity in early childhood autism. METHODS: We investigated 30 autistic children (23 boys, seven girls 2-4 years old) for atopic history, serum IgG, IgA, IgM, IgE levels, and skin prick tests (SPT) with 12 common antigens. RESULTS: Nine/30 autistic children (30%) and 1/39 (2.5%) age-matched neurological controls from the same hospital had a family history suggestive of atopy (p<0.005). No patient in the autism and 28% in control group had symptoms of respiratory allergy (wheezing or asthma) (p<0.005), and 6/30 (20%) autistic vs. 7/39 (17%) control children had history suggesting other allergic disorders (p=ns). Eleven/23 (47.8%) autistic children had at least one positive skin test, similar to age-matched population controls. Serum IgG, IgA, and IgM levels were within age-appropriate limits. Serum IgE was elevated in four patients (13.3%). Specific IgE levels were negative in four cases with multiple SPT positivity. CONCLUSIONS: This study suggests allergic features based on history, skin tests, and serum IgE levels are not frequent in young autistic children despite family history. This discrepancy between predisposition and manifestation might imply immunological factors or environmental conditions.     

Patterns of development in young children with autism

Objective: To determine the extent to which the developmental profile of children less than 4 years can help in distinguishing children with autism from children with developmental delay.Methods: Subjects were 32 children with autism as per the DSM IV criteria and 32 children with developmental delay matched on chronological and academic age. The Developmental Profile II was used to assess the developmental functioning in five domains including physical, social, self help, academic, and communication.Results: The two groups showed significantly different developmental profiles and these differences were accounted for mainly by significantly lower social skills and superior motor skills in the autistic group as compared to the developmentally delayed group.Conclusion: Developmental Profile II may help in distinguishing young children with autistic disorder from non-autistic children with comparable developmental delays     

Tuberous Sclerosis Complex in Autism

Objective

To study the prevalence rate of tuberous sclerosis complex in autistic disorder.

Methods

We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005–2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.

Findings

Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.

Conclusion

The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.     

Intérêts de la psychothérapie à médiation sensorielle dans le cadre de la prise en charge des troubles de la relation et de la communication chez des enfants autistes sévèrement déficitaires II : illustration clinique

Background

Sensory and emotional disorders are typical in autism spectrum and were analyzed by psychological, neuropsychological and psychodynamic models of interpretation. Our theoretical analysis revealed that sensory-based solicitation of the autistic patients with intellectual disabilities could allow the revival of the intersubjectivity development. Therefore, the emergence of a relational and communicative dynamic. We conceptualized an approach of psychotherapy with sensory mediation intended to formulate therapeutic proposals for remediation of relationship and communication disorders.

Objectives

In this study, we aim: to present our care devices and method and their application within the framework of a developmental, clinical and experimental research program; to report the main results obtained with five patients as a clinical illustration.

Method

During 18 months, we exposed five patients to individual weekly sessions of psychotherapy with sensory mediation. Our experimental group, constituted of three children presenting severe intellectual disability associated with autistic disorders. It was compared to a control group with two children showing the similar level of intellectual deficiency but without autistic disorders. Quantitative (i.e. statistical) and qualitative analyses of the therapeutic effects were performed in the following domains: sensory integration, social interaction, communication, stereotypies, “positive” behaviors and “negative” behaviors.

Results

The specificity of the sensory profile of children with autistic disorders was shown. Moreover, we calculated a Sensory Integration Index allowing observation of the improvement of the autistic children's sensory integration capacity along the continuous care. Both groups increased significantly their investment of the plurimodal stimulations (i.e. associated proximal and distal stimulations). In parallel, the psychotherapy sessions allowed an increased level of social interaction and communicative skills for both groups. Furthermore, the number of stereotypies decreased for the autistic children in the course of care.     

Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence

Objective:  The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS).
Method:  Sixty-four high-functioning children with ASD were ascertained at 4–6 years of age from several different regional diagnostic and treatment centers. At 6–8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6–8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization.
Results:  Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills.
Conclusion:  Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.     

Some etiologic and prognostic factors in early infantile autism and psychosis.

Fifty infants and young preschool children seen in a pediatric developmental service and diagnosed as having "autism" all had evidence of organic disease of the brain and three fourths had mental deficiency of varying degrees. They did not differ in any respect from a comparison group of patients with central nervous system dysfunction unassociated with the symptom complex of autism. Both groups of patients had a high incidence of low birthweight, complications of pregnancy and the neonatal period, seizure disorders, and a variety of specific disease entities associated with developmental defects. Follow-up of 40 of the 45 survivors for a mean of five years showed that none of the patients had had treatment directed to their psychotic symptoms. However, three fourths had established social responses appropriate to their level of function; those who did not generally were over 3 years of age at the time of their first examination or had initial DQs of 35 or less. The degree of mental deficiency was as great or greater at follow-up than it was initially.     

Autistic and dysphasic children. I: Clinical characteristics

Autism and dysphasia are behaviorally defined disorders of higher cerebral function which in preschool children share the common core symptom of impairment of language. In this study we describe the clinical characteristics of 314 autistic and 237 dysphasic nonautistic children evaluated by one child neurologist. There was no significant difference between autistic and dysphasic children in gestational age, birth weight, or prevalence of associated medical disorders, all of which were infrequent, although a positive history of resuscitation or ventilatory support was more common in dysphasic than autistic children (P = .03). As a group autistic children are more likely than dysphasic children to have language subtypes affecting central processing and formulation, a family history of psychiatric disorders and autism, and a history of regression of language and behavior. After excluding 12 girls with autistic symptoms who met the clinical criteria for Rett syndrome, we found that there was no significant difference in the number of autistic and dysphasic children with an abnormal sensorimotor examination. Girls with autism were more likely than boys to have severe mental deficiency (38% of autistic girls vs 23% of boys) (P = 0.012) and a motor deficit (27% vs 11%) (P = .0009).     

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.     

孤独症患儿婴儿时期的行为特征研究

目的：探讨孤独症患儿的早期特征性行为,为早期诊断提供依据。方法：采用回顾性调查方法对30例孤独症患儿及26例其他发育迟缓患儿在婴儿期的异常行为进行调查分析。结果：孤独症在婴儿时期以没有社交微笑、没有目光对视,对环境反应淡漠,很难用声音、动作或玩具吸引患儿的注意,叫其名字没有反应等症状明显区别于发育迟缓患儿(P<0.01);模仿、依恋行为差异有显著性(P<0.01或P<0.05);刻板动作及兴趣怪异仅见于孤独症患儿,但发生率较低。结论：孤独症在婴儿期即表现出许多特异性症状,表明孤独症多起病于生后早期,这些症状不同于其他智力发育迟缓患儿,对于孤独症的早期识别具有重要意义。     

孤独症患儿发育倒退特征的研究

目的：大约30%左右孤独症的患儿在2岁左右出现发育倒退。“倒退型”患儿的病程发展、临床表现尚不十分清楚,因此该研究对一组有发育倒退特征的孤独症患儿进行了研究。方法：符合DSM-IV孤独症诊断标准的孤独症患儿152例, 年龄2.5～6.5岁,根据有无语言发育倒退进行分组。调查患儿的围产期情况、发育史及发育倒退的特征,并对两组患儿的症状进行比较。结果：33例(21.7％)患儿在生后16~21个月时出现语言及社交功能的倒退。CARS量表(Childhood Autism Rating Scale)的评分比较显示倒退组明显高于非倒退组（P<0.05）;倒退组中重症患儿所占比例（66.7%）明显高于非倒退组（45.4%）（P<0.05）。结论：发育倒退在孤独症中占有一定的比例,对于孤独症的诊断具有意义。倒退型患儿的症状程度比非倒退型患儿更为严重,提示倒退型可能为孤独症的一类特殊表型。［中国当代儿科杂志,2010,12（10）：781-783］     

The genetics of autism

Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Autism corresponds in this article to pervasive developmental disorder (PDD) of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and International Classification of Diseases, Tenth Revision. Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. Review of 2 major textbooks on autism and of papers published between 1961 and 2003 yields convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown) causes. Autism is frequent in tuberous sclerosis complex and fragile X syndrome, but these 2 disorders account for but a small minority of cases. Currently, diagnosable medical conditions, cytogenetic abnormalities, and single-gene defects (eg, tuberous sclerosis complex, fragile X syndrome, and other rare diseases) together account for <10% of cases. There is convincing evidence that "idiopathic" autism is a heritable disorder. Epidemiologic studies report an ASD prevalence of approximately 3 to 6/1000, with a male to female ratio of 3:1. This skewed ratio remains unexplained: despite the contribution of a few well characterized X-linked disorders, male-to-male transmission in a number of families rules out X-linkage as the prevailing mode of inheritance. The recurrence rate in siblings of affected children is approximately 2% to 8%, much higher than the prevalence rate in the general population but much lower than in single-gene diseases. Twin studies reported 60% concordance for classic autism in monozygotic (MZ) twins versus 0 in dizygotic (DZ) twins, the higher MZ concordance attesting to genetic inheritance as the predominant causative agent. Reevaluation for a broader autistic phenotype that included communication and social disorders increased concordance remarkably from 60% to 92% in MZ twins and from 0% to 10% in DZ pairs. This suggests that interactions between multiple genes cause "idiopathic" autism but that epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The identity and number of genes involved remain unknown. The wide phenotypic variability of the ASDs likely reflects the interaction of multiple genes within an individual's genome and the existence of distinct genes and gene combinations among those affected. There are 3 main approaches to identifying genetic loci, chromosomal regions likely to contain relevant genes: 1) whole genome screens, searching for linkage of autism to shared genetic markers in populations of multiplex families (families with >1 affected family member; 2) cytogenetic studies that may guide molecular studies by pointing to relevant inherited or de novo chromosomal abnormalities in affected individuals and their families; and 3) evaluation of candidate genes known to affect brain development in these significantly linked regions or, alternatively, linkage of candidate genes selected a priori because of their presumptive contribution to the pathogenesis of autism. Data from whole-genome screens in multiplex families suggest interactions of at least 10 genes in the causation of autism. Thus far, a putative speech and language region at 7q31-q33 seems most strongly linked to autism, with linkages to multiple other loci under investigation. Cytogenetic abnormalities at the 15q11-q13 locus are fairly frequent in people with autism, and a "chromosome 15 phenotype" was described in individuals with chromosome 15 duplications. Among other candidate genes are the FOXP2, RAY1/ST7, IMMP2L, and RELN genes at 7q22-q33 and the GABA(A) receptor subunit and UBE3A genes on chromosome 15q11-q13. Variant alleles of the serotonin transporter gene (5-HTT) on 17q11-q12 are more frequent in individuals with autism than in nonautistic populations. In addition, animal models and linkage data from genome screens implicate the oxytocin receptor at 3p25-p26. Most pediatricians will have 1 or more children with this disorder in their practices. They must diagnose ASD expeditiously because early intervention increases its effectiveness. Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive medical testing and genetic consultation. The yield of testing is much less in high-functioning children with a normal appearance and IQ and moderate social and language impairments. Genetic counseling justifies testing, but until autism genes are identified and their functions are understood, prenatal diagnosis will exist only for the rare cases ascribable to single-gene defects or overt chromosomal abnormalities. Parents who wish to have more children must be told of their increased statistical risk. It is crucial for pediatricians to try to involve families with multiple affected members in formal research projects, as family studies are key to unraveling the causes and pathogenesis of autism. Parents need to understand that they and their affected children are the only available sources for identifying and studying the elusive genes responsible for autism. Future clinically useful insights and potential medications depend on identifying these genes and elucidating the influences of their products on brain development and physiology.     

Prevalence of autism and parentally reported triggers in a north east London population.

BACKGROUND: The recorded prevalence of autistic spectrum disorders has risen over recent decades. Measles, mumps and rubella (MMR) vaccine has been blamed, by causing a "new variant" form of "regressive autism" associated with "autistic enterocolitis". AIMS: To estimate the prevalence of autism and to assess any changes in parental perception regarding the onset or causes of autism. METHODS AND RESULTS: A total of 567 children with autistic spectrum disorder in five districts in north east London were identified, born 1979-98. Reported autism, excluding the 94 cases of Asperger's syndrome, increased by year of birth until 1992, since when prevalence has plateaued. This flattening off persisted after allowing for expected delay in diagnosis in more recent birth cohorts. The age at diagnosis of autistic spectrum disorder was estimated to have decreased per five year period since 1983, by 8.7% for childhood autism and by 11.0% for atypical autism. There was some evidence that MMR was more likely to be mentioned as a trigger after August 1997 than before. CONCLUSIONS: The prevalence of autism, which was apparently rising from 1979 to 1992, reached a plateau from 1992 to 1996 at a rate of some 2.6 per 1000 live births. This levelling off, together with the reducing age at diagnosis, suggests that the earlier recorded rise in prevalence was not a real increase but was likely due to factors such as increased recognition, a greater willingness on the part of educationalists and families to accept the diagnostic label, and better recording systems. The proportion of parents attributing their child's autism to MMR appears to have increased since August 1997.     

A five-year follow-up of preschool children diagnosed as having an atypical pervasive developmental disorder

Twelve of eighteen preschool children, previously diagnosed as having an atypical pervasive developmental disorder (APDD), using the third edition of the Diagnostic and Statistical Manual (DSM-III) of the American Psychiatric Association, were followed up 5 years later. The follow-up consisted of a pediatric neurodevelopmental evaluation and the administration of the Personality Inventory for Children (PIC), and a scale derived from the criteria for an autistic disorder (AD) in the revised third edition of the Diagnostic and Statistical Manual (DSM-III-R). The children continued to have significant emotional, social, and cognitive problems at follow-up. Almost all required some form of therapeutic intervention, and many received multiple interventions. A broader range of symptoms (including positive symptoms of schizophrenia and signs of affective and anxiety disorders) were noted. A comparison of DSM-III and DSM-III-R criteria for autism with this population revealed a lack of reliability in diagnoses between systems, both with respect to the more specific diagnosis ("autism") and the less specific atypical diagnoses. The authors discuss the implications of these findings with respect to the interpretation of future follow-up studies of autistic and atypical children.     

No evidence for a clear link between active intestinal inflammation and autism based on analyses of faecal calprotectin and rectal nitric oxide

AIM: Due to parental concern regarding the child's bowel habits and the ongoing discussion whether there might be an association between autism and intestinal inflammation, two inflammatory markers were analysed in a group of children with autism. METHODS: Twenty-four consecutive children with autism (3-13 years) of unknown aetiology were investigated with respect to faecal calprotectin and rectal nitric oxide (NO). RESULTS: One child who previously had a severe Clostridium difficile infection displayed raised levels of both these inflammatory markers and one child with extreme constipation for whom only calprotectin was possible to measure had raised levels. The remaining children displayed results that did not indicate an active inflammatory status in the intestine when the two inflammatory markers were combined. CONCLUSION: By the use of two independent markers of inflammatory reactions in the gut, i.e. rectal NO and faecal calprotectin we were not able to disclose evidence of a link between the autistic disorder and active intestinal inflammation.     

Autism Spectrum Disorders at 20 and 42 Months of Age: Stability of Clinical and ADI-R Diagnosis

The association between, and stability of, clinical diagnosis and diagnosis derived from the Autism Diagnostic Interview-Revised (ADI-R; Lord, Rutter, & Le Couteur, 1994) was examined in a sample of prospectively identified children with childhood autism and other pervasive developmental disorders assessed at the age of 20 months and 42 months. Clinical diagnosis of autism was stable, with all children diagnosed with childhood autism at age 20 months receiving a diagnosis of childhood autism or a related pervasive developmental disorder (PDD) at age 42 months. Clinical diagnosis of childhood autism was also reasonably sensitive, with all children who went on to receive a clinical diagnosis of childhood autism at 42 months being identified as having autism or PDD at 20 months. However, clinical diagnosis for PDD and Asperger's syndrome lacked sensitivity at 20 months, with several children who subsequently received these diagnoses at 42 months receiving diagnoses of language disorder or general developmental delay, as well as in two cases being considered clinically normal, at the earlier timepoint. The ADI-R was found to have good specificity but poor sensitivity at detecting childhood autism at 20 months; however, the stability of diagnosis from 20 to 42 months was good. In addition, the ADI-R at age 20 months was not sensitive to the detection of related PDDs or Asperger's syndrome. The continuity and discontinuity between behavioural abnormalities identified at both timepoints in the three domains of impairment in autism was examined, both in children who met final clinical criteria for an autistic spectrum disorder, and for children with language disorder who did not, as well as for a small sample of typically developing children.     

Disintegrative Disorder or "Late Onset" Autism

Ten cases of disintegrative disorder were identified within a larger sample of 165 individuals who met behavioral criteria for autism. These cases were compared to autistic individuals whose disorder had been recognized by age 2 and to those whose disorder had been recognized after age 2. Consistent with previous reports, children with disintegrative disorder had a period of normal development preceding the onset of a profound developmental regression from which they made, at best, only a limited recovery. Both clinical features at the time of regression and various outcome measures support the validity of the diagnostic concept, particularly when such cases are compared to "late onset" autistic ones.     

The assessment of psychophysiological dysfunction in children using the BSE scale before and during therapy.

The purpose of exchange and development therapies (EDT) is to reduce the behavioural problems which are the expression of psychophysiological dysfunction. The aim of this study was to reveal the most disturbed psychophysiological functions and their evolution during the course of EDT in 42 children divided into three groups; group I--15 children with pure autism (A); group II--16 children with autism associated with neurological disorders (AA); and group III--11 children with pervasive developmental disorders (PDD). Among the 12 functions analysed, groups AA, A and APDD had respectively 8, 6 and 4 functions in which the score was high (> 2.5), indicating serious disorders (maximum 4). All the dysfunctions improved during EDT. However, each group had certain areas which were more susceptible to treatment. Further analysis of behaviour problems led to a more precise definition of the objectives and to the adaptation of the therapeutic methods to obtain greater effectiveness.     

Diagnostic Rules for Children with PDD-NOS and Multiple Complex Developmental Disorder

This study was designed to examine the classification performance of diagnostic rules for pervasive developmental disorder not otherwise specified (PDD-NOS) and multiple complex developmental disorder (McDD), with clinical diagnosis as the gold standard. McDD is an heuristic concept of a developmental disorder characterised by social impairments, affective dysregulation, and thought disturbance. Detailed information on the symptoms, reliably extracted from the charts of 103 children with PDD-NOS and McDD, 32 with autistic disorder, and 96 with non-PDD disorders, was used to determine the presence of the DSMIV criteria of autistic disorder and the criteria of McDD. A scoring rule for PDD-NOS based on a short set of seven DSM-IV criteria with a cut-off point of three items and one social interaction item set as mandatory had the best balance between high sensitivity and high specificity. The most effective and simple rule based on McDD criteria had a cut-off of three items, out of six items of anxieties and thought disturbance.     

Prevalence of autism and parentally reported triggers in a north east London population

Background: The recorded prevalence of autistic spectrum disorders has risen over recent decades. Measles, mumps and rubella (MMR) vaccine has been blamed, by causing a "new variant" form of "regressive autism" associated with "autistic enterocolitis". Aims: To estimate the prevalence of autism and to assess any changes in parental perception regarding the onset or causes of autism. Methods and Results: A total of 567 children with autistic spectrum disorder in five districts in north east London were identified, born 1979–98. Reported autism, excluding the 94 cases of Asperger''s syndrome, increased by year of birth until 1992, since when prevalence has plateaued. This flattening off persisted after allowing for expected delay in diagnosis in more recent birth cohorts. The age at diagnosis of autistic spectrum disorder was estimated to have decreased per five year period since 1983, by 8.7% for childhood autism and by 11.0% for atypical autism. There was some evidence that MMR was more likely to be mentioned as a trigger after August 1997 than before. Conclusions: The prevalence of autism, which was apparently rising from 1979 to 1992, reached a plateau from 1992 to 1996 at a rate of some 2.6 per 1000 live births. This levelling off, together with the reducing age at diagnosis, suggests that the earlier recorded rise in prevalence was not a real increase but was likely due to factors such as increased recognition, a greater willingness on the part of educationalists and families to accept the diagnostic label, and better recording systems. The proportion of parents attributing their child''s autism to MMR appears to have increased since August 1997.     

Extraction and Refinement Strategy for detection of autism in 18-month-olds: a guarantee of higher sensitivity and specificity in the process of mass screening

Background: For early detection of autism, it is difficult to maintain an efficient level of sensitivity and specificity based on observational data from a single screening. The Extraction and Refinement (E&R) Strategy utilizes a public children’s health surveillance program to produce maximum efficacy in early detection of autism. In the extraction stage, all cases at risk of childhood problems, including developmental abnormality, are identified; in the refinement stage, cases without problems are excluded, leaving only cases with conclusive diagnoses. Methods: The city of Yokohama, Japan, conducts a routine child health surveillance program for children at 18 months in which specialized public health nurses administer YACHT‐18 (Young Autism and other developmental disorders CHeckup Tool), a screening instrument to identify children at risk for developmental disorders. Children who screen positive undergo further observation, and those without disorders are subsequently excluded. To study the efficacy of early detection procedures for developmental disorders, including autism, 2,814 children born in 1988, examined at 18 months of age, and not already receiving treatment for diseases or disorders were selected. Results: In the extraction stage, 402 (14.3%) children were identified for follow‐up. In the refinement stage, 19 (.7%) of these were referred to the Yokohama Rehabilitation Center and diagnosed with developmental disorders. The extraction stage produced four false negatives, bringing total diagnoses of developmental disorders to 23 (.8%) – including 5 with autistic disorder and 9 with pervasive developmental disorder – not otherwise specified (PDDNOS). Sensitivity was 60% for autistic disorder and 82.6% for developmental disorders. Specificity for developmental disorders rose to 100% with the E&R Strategy. Picture cards used in YACHT‐18 provided a finer screen that excluded some false positive cases. Conclusions: An extraction and refinement methodology utilizing child health surveillance programs achieve high efficacy for early detection of autism.