Autism & Down Syndrome Dual Diagnosis Abstracts

J Dev Behav Pediatr 31(3): 181-91 (2010 Apr)

Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test characteristics

DiGuiseppi C, Hepburn S, Davis JM, Fidler DJ, Hartway S, Lee NR, Miller L, Ruttenber M, Robinson C. Source
Department of Epidemiology, Colorado School of Public Health, University of Colorado Denver, Aurora, CO 80045, USA.

OBJECTIVE: We assessed the prevalence of autism spectrum disorders (ASD) and screening test characteristics in children with Down syndrome.
METHOD: Eligible children born in a defined geographic area between January 1, 1996, and December 31, 2003, were recruited through a population-based birth defects registry and community outreach, then screened with the modified checklist for autism in toddlers or social communication questionnaire, as appropriate. Screen-positive children and a random sample of screen-negative children underwent developmental evaluation.
RESULTS: We screened 123 children (27.8% of the birth cohort). Mean age was 73.4 months (range, 31-142). Compared to screen-negative children, screen-positive children had similar sociodemographic characteristics but a lower mean developmental quotient (mean difference: 11.0; 95% confidence interval: 4.8-17.3). Weighted prevalences of autistic disorder and total ASD were 6.4% (95% confidence interval [CI]: 2.6%-11.6%) and 18.2% (95% CI: 9.7%-26.8%), respectively. The estimated minimum ASD prevalence, accounting for unscreened children, is 5.1% (95% CI: 3.3%-7.4%). ASD prevalence increased with greater cognitive impairment. Screening test sensitivity was 87.5% (95% CI: 66.6%-97.7%); specificity was 49.9% (95% CI: 37.0%-61.4%).
CONCLUSION: The prevalence of ASD among children with Down syndrome aged 2 to 11 years is substantially higher than in the general population. The modified checklist for autism in toddlers and social communication questionnaire were highly sensitive in children with Down syndrome but could result in many false positive tests if universal screening were implemented using current algorithms. Research needs include development of specific ASD screening algorithms and improved diagnostic discrimination in children with Down syndrome. Timely identification of these co-occurring diagnoses is essential so appropriate interventions can be provided.

Neuroreport 16;19(6): 653-6 (2008 Apr 16)

Neuroanatomic correlates of autism and stereotypy in children with Down syndrome

John C. Carter¹, George T. Capone^{1 2}, Walter E. Kaufmann^{1 2 3}
¹Center for Genetic Disorders of Cognition & Behavior, Kennedy Krieger Institute, Baltimore, Maryland. ²Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. ³Department of Pathology, Neurology, Psychiatry and Behavioral Sciences, and Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.

We conducted semiautomated, atlas-based analyses of regional brain volume changes on MRIs of children and adolescents with Down syndrome (DS) (N=15), DS with comorbid autism spectrum disorder (ASD) (N=15), and age-matched or sex-matched typically developing controls (N=22). Selective volumetric changes were correlated with neurobehavioral measures to determine their functional significance. DS involved selective reduction of frontal and parietal gray matter volumes, beyond the global microencephaly typically observed in this condition. DS with comorbid ASD involved relative hyperplasia of white matter in the cerebellum and brainstem compared with DS only. Cerebellar white matter volumes were positively correlated with severity of stereotypies, a distinctive feature of ASD in DS.

Am J Med Genet (Neuropsychiatr Genet) Part B 144B: 87-94 (2007)

Autistic-spectrum disorders in Down syndrome: Further delineation and distinction from other behavioral abnormalities

John C. Carter¹, George T. Capone^{1 2}, Robert M. Gray^{1 3}, Christiane S. Cox^{1 4}, Walter E. Kaufmann^{1 2 3 4 5}
¹Center for Genetic Disorders of Cognition & Behavior, Kennedy Krieger Institute, Baltimore, Maryland. ²Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland. ³Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland. ⁴Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland. ⁵Departments of Pathology and Radiology and Radiologic Science, Johns Hopkins University School of Medicine, Baltimore, Maryland.

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.

Kentucky Junior Academy of Science Psychology Undergraduate Research Competition. (2006 Oct 13)

Age of developmental regression in children with autism with and without Down syndrome

Jennifer Howard¹, and Cynthia Molloy, Bonnie Patterson, Fran Hickey and Heidi Castillo².
¹Department of Biology, Bellarmine University, Louisville, KY 40205
²Division of Developmental and Behavioral Pediatrics and Center for Epidemiology and Biostatistics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229

Autism is a neurodevelopmental disorder characterized by difficulties in social interaction, communication, and restrictive behaviors. Compared to the general population, autism is ten times more prevalent in children with Down syndrome, a genetic disorder causing mental retardation. Regression, the loss of previously acquired skills, occurs in 30% of children with autism. Rarely documented in other developmental disorders, regression generally appears in autistic children between 18 and 24 months of age. However, clinicians have observed that children with both autism and Down syndrome were reported to have regression onset between 3 and 8 years. In this study, we compared the mean age of language and other skill regression using the Autism Diagnostic Interview-Revised (ADI-R) in children with autistic regression with and without Down syndrome, to confirm the clinical observation that autistic regression occurs later in children with Down syndrome. In this case control design, 10 cases of Down syndrome with autism and regression were compared to age matched controls with autism and regression without Down syndrome. Among children with Down syndrome the mean age of language loss = 58.7 months ± 27.9, compared to 20.7 months ± 15 for children without Down syndrome (p=0.02) while mean age of other skill loss = 54.1 months ± 42.0 compared to 17.3 months ± 2.4 for the controls (p=0.03). These preliminary data suggest autistic regression occurs later in children with Down syndrome. Further investigation will determine if the altered brain development seen in Down syndrome contributes to this difference.

Am J Med Genet Neuropsychiatr Genet Part (B) (2006)

Autistic-Spectrum Disorders in Down Syndrome: Further Delineation and Distinction from Other Behavioral Anormalities

John C. Carter¹, George T. Capone^{1 2}, Robert M. Gray^{1 3}, Christiane S. Cox^{1 4}, Walter E. Kaufmann^{1 2 3 4 5}
¹Center for Genetic Disorders of Cognition & Behavior, Kennedy Krieger Institute, Baltimore, Maryland
²Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
³Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland
⁴Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland
⁵Departments of Pathology and Radiology and Radiologic Science, Johns Hopkins University School of Medicine, Baltimore, Maryland

Journal of Autism and Developmental Disorders 35 (5): 665-73 (2005 Oct)

Brief Report: Autism in Individuals with Down Syndrome

Elizabeth M. Starr^1,2, Sibel Kazak Berument¹, Megan Tomlins¹, Katerina Papanikolaou¹ and Michael Rutter¹
¹MRC Child Psychiatry Unit, University of London, UK
²Faculty of Education, University of Windsor, N9B 3P4 Windsor, Ontario, Canada

As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R) and the A-PL-ADOS, which are well-validated interview and observational diagnostic measures. Three out of 13 met lifetime criteria on the ADI-R, but none of these three showed behavior that met the criterion for autism on the A-PL-ADOS (although two nearly did so). However, two individuals did meet the A-PL-ADOS criterion and showed behavior that fell only just short of meeting lifetime criteria on the ADI-R. Altogether, 5 individuals with Down syndrome may be considered to show an autism spectrum disorder. Of the remaining 8, some showed a few autistic features, and some showed none. The findings raise both methodological and conceptual issues.

American Journal of Medical Genetics A 134 (4): 373-80 (2005 May)

Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist

George T. Capone^{1 2 5 *}, Marco A. Grados³, Walter E. Kaufmann^{2 3 4 5}, Susana Bernad-Ripoll¹, Amy Jewell¹
¹Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland
²Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
³Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland
⁴Departments of Pathology, Neurology, Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland
⁵Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, Maryland
^*Correspondence to George T. Capone, Kennedy Krieger Institute, 707 N. Broadway, Baltimore Md 21205.

To report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic-spectrum disorder (ASD) according to DSM-IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished from their typical DS peers using the ABC. Cross-sectional design. Cases with DS + ASD (N = 61), comparison group of DS + stereotypy movement disorder (SMD) (N = 26) and typical DS controls without behavior problems (N = 44) were ascertained and enrolled sequentially upon presentation to a DS clinic at an academic medical center over a 10-year period from 1991 to 2001. All subjects underwent neurodevelopmental and medical evaluation, and standardized cognitive testing. The parents provided responses to standardized behavioral questionnaires. Cognitive function (IQ) differed markedly across the three groups. The Lethary and Stereotypy subscales of the ABC were highly significant (P < 0.001) in distinguishing the three groups from one another. Within the ASD group differences were apparent by DSM-IV type on the Lethargy subscale, which reached significance, ANOVA (F = 0.002) and t-test (Autism > PDD, P = 0.005; PDD < CDD, P = 0.002). Using a multivariate regression model, the ABC scales alone explained 62% of variance of ASD outcome; addition of demographic variables explained up to 68% of the variance. There is good correlation between DSM-IV criteria for autism and subscales scores on the ABC in subjects with DS. This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes.

British Journal of Learning Disabilities, 31 (2): 85-90 (2003 Jun)

Working with an adult male with Down's syndrome, autism and challenging behaviour: Evaluation of a programme of staff support and organizational change

Newman, David W.¹; Summerhill, Lisa1; Mosley, Ellis²; Tooth, Claire²
¹Psychological Health Care, 11/12 Keresforth Close, Off Broadway, Barnsley S70 6RS, UK
²Department of Clinical Psychology, Sheffield University, Western Bank, Sheffield S10 2TP, UK

The dual diagnosis of Down's syndrome and autism is a relatively rare clinical phenomenon. The identification of multiple diagnostic presentations in individual cases can bring a complex clarity to what is an initially confusing picture. This paper examines the case of a male who has Down's syndrome and has been referred to a Clinical Psychology Service because he is presenting with 'severe challenging behaviour'. The paper provides: (i) a case history and rationale for the assessment of autism, (ii) a description of methodology incorporating a single case design and (iii) an intervention aimed at increasing staff awareness of autism, improving staff communication and implementing an integrated care plan across environments. It was hypothesized that an intervention incorporating these important organizational changes would support staff in meeting the client's needs. The success of the intervention was measured in terms of the frequency of (i) positive behaviours and (ii) challenging behaviours displayed by the client. Frequencies are charted and statistical analysis applied. Results illustrate a positive change in the day centre environment but no significant change in the home environment. These results are discussed in relation to methodological considerations and issues for future service provision.

Dev Med Child Neurol 43 (11): 750-4 (2001 Nov)

Autistic disorders in Down syndrome: Background factors and clinical correlates

Rasmussen P, Börjesson, Wentz E, Gillberg C
Institute for the Health of Women and Children, Department of Child and Adolescent Psychiatry, University of Goteburg, Sweden

A study of a clinic-based sample of 25 individuals (12 females, 13 males; age at diagnosis 14.4 years, SD 7.4 years; age range 4 to 33 years) with Down syndrome (DS) and autism spectrum disorders, demonstrates that autism is by no means rare in DS. Results showed that there was a considerable delay in the diagnosis of autism as compared with children with autism who did not have DS. In 11 participants medical factors were identified that were likely to be of importance in contributing to the development of autism, and in four further participants there were factors of possible significance. Such factors include a history of autism or autism-related disorders in first- or second-degree relatives (n=5 participants), infantile spasms (n=5), early hypothyroidism (n=3), evidence of brain injury after complicated heart surgery (n=2), or a combination of these factors. It is important that autism is recognized, identified, and fully assessed in individuals with DS in order for them to receive appropriate education and support.

Dev Med Child Neurol 41 (3): 153-8 (1999 Mar)

Comorbidity of autistic spectrum disorders in children with Down syndrome

Kent L; Evans J; Paul M; Sharp M
Parkview Clinic, Moseley, Birmingham, UK

The aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with Down syndrome (DS). All children with DS within a defined population of South Birmingham were identified. The Asperger Syndrome Screening Questionnaire and the Child Autism Rating Scale were completed and diagnosis made according to ICD-10 criteria following interview and observation. Thirty-three of 58 identified children completed the measures, four of whom received a diagnosis of an autistic spectrum disorder. This is equivalent to a minimum comorbid rate of 7%. The questionnaire items concerning social withdrawal, restricted or repetitive interests, clumsiness, and unusual eye contact were associated with an autistic disorder. Of the remaining 29 participating children, 11 also displayed marked obsessional and ritualistic behaviours. The comorbid occurrence of autism and DS is at least 7%. It is important that these children are identified and receive appropriate education and support. A full assessment of social, language, and communication skills and behaviour is crucial, particularly in children with DS who appear different from other children with DS. Potential mechanisms accounting for this comorbidity are discussed.

J Intellect Disabil Res 41 (1): 87-91 (1997 Feb)

Autism in Down's syndrome: family history correlate

Ghaziuddin, M.
Taubman Centre, University of Michigan Medical Centre, Ann Arbor 48109-0390, USA

Although the association of autism with Down's syndrome is said to be uncommon, several reports have described the co-occurrence of the two disorders. This report describes three additional cases of Down's syndrome with autism. In all the patients, a history suggestive of the broader phenotype of autism was obtained in parents. This suggests that familial factors specific to autism may play an important role even when autism complicates a known medical condition such as Down's syndrome.

Dev Med Child Neurol 37 (5): 406-414 (1995 May)

The recognition of autism in children with Down syndrome—implications for intervention and some speculations about pathology

Howlin P, Wing L, Gould J
Department of Psychology, St George's Hospital Medical School, Tooting, London, UK

Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 or DSM-III-R, but in each case the parents had faced considerable difficulties in obtaining this diagnosis. Instead, the children's problems had been attributed to their cognitive delays, despite the fact that their behaviour and general progress differed from other children with Down syndrome in many important aspects. The implications, for both families and children, of the failure to diagnose autism when it co-occurs with other conditions such as Down syndrome are discussed. Some speculations about possible pathological associations are also presented.

Hum Genet 92 (5): 441-5 (1993 Nov)

Molecular and cytogenetic analyses of autism in Taiwan

Li S. Y.; Chen, Y. C.; Lai, T. J.; Hsu, C. Y.; Wang, Y. C.
Cytogenetics Laboratory, Chung Shan Medical and Dental College, Taichung, Taiwan, Republic of China

Karyotypic and DNA analyses were both performed on 104 autistic children referred from Taichung Autism Education Academy and Tainan Autism Association in Taiwan. The frequency of fragile sites of the autistic patients did not differ significantly from that of the normal individuals. Of the 12 autistic children with chromosomal abnormalities, 8 had the fragile X, 2 had Down syndrome, and the remaining had other aneuploid constitutions. The results of this study illustrate the contribution of chromosomal abnormalities or variants to the pathogenesis of infantile autism.

J Intellect Disabil Res 36 (5): 449-456 (1992 Oct)

Autism in Down's syndrome: presentation and diagnosis

Ghaziuddin M., Tsai L. Y., Ghaziuddin N.
Division of Child and Adolescent Psychiatry, University of Michigan, Ann Arbor 48109-0390

Although autism is said to occur rarely with Down's syndrome, it may be more common in those persons with Down's syndrome who also show superimposed behavioural problems. In this brief report, the authors explore this possibility. They describe three patients with Down's syndrome who were referred for behavioural reasons and were found to have coexisting autism. They propose that a systematic study of the association of these two conditions may have implications on research and clinical practice.

J Am Acad Child Adolesc Psychiatr 27 (4): 440-441 (1988 Jul)

Autistic social dysfunction and Down syndrome

Bregman, J. D., Volkmar F. R.

Recent research suggests that Down syndrome (DS) children exhibit a broad range of personality styles and interest in interpersonal interaction. Autism has been observed in association with a number of other conditions but very rarely in association with Down syndrome. A child with DS who also meets criteria for autism is presented. Implication of the association of these disorders are discussed.

J Autism Dev Disord 9 (1): 31-36 (1979 Mar)

A case of infantile autism associated with Down's syndrome

Wakabayashi, S.

There is increasing recognition that autism is a syndrome, not a disease entity. But it is not yet clear why some children develop autistic behavior more easily than others. It has been noted that autistic symptoms occur more frequently in children with mental retardation, blindness, congenital rubella, phenylketonuria, etc., and that there are very few cases of classical infantile autism in the general population. Very rarely has autism been associated with Down's syndrome. This is a report of a case of Down's syndrome and infantile autism.

J Autism Dev Disord 9 (1): 11-29 (1979 Mar)

Severe impairment of social interaction and associated abnormalities in children; epidemiology and classification

Wing L, Gould J

The prevalence, in children aged under 15, of severe impairments of social interaction, language abnormalities, and repetitive stereotyped behaviors was investigated in an area of London. A 'socially impaired' group (more than half of whom were severely retarded) and a comparison group of 'sociable severely mentally retarded' children were identified. Mutism or echolalia, and repetitive stereotyped behaviors were found in almost all the socially impaired children, but to a less marked extent in a minority of the sociable severely retarded. Certain organic conditions were found more often in the socially impaired group. A subgroup with a history of Kanner's early childhood autism could be identified reliably but shared many abnormalities with other socially impaired children. The relationships between mental retardation, typical autism, and other conditions involving social impairment were discussed, and a system of classification based on quality of social interaction was considered.