autism in down's syndrome: presentation and diagnosis

Participant 2, a 12-year-old boy with a Vineland social quotient of below 20 and a MerrillPalmer ratio IQ of 35, met criteria for autism on the ADI-R at the age of 45years largely on the basis of a paucity of social/communication skills rather than a particularly autistic quality. Autism spectrum disorder (ASD) is a name used to describe a wide range of neurodevelopmental conditions that can be observed through certain behaviors, communication techniques, and styles of. (1997). FOIA Age at diagnosis of autism spectrum disorders. Signs and Symptoms of Autism Spectrum Disorders | CDC Brief Report: Autism in Individuals with Down Syndrome lack of eye contact when speaking. She did respond readily to her name being called, however, and demonstrated a limited range of facial expressions. American Psychistric Association; 2013. She is very slow in whatever she does, and needs constant prompting to complete any task (such as getting dressed). We did not have a comparative group of families of children with DS alone or ASD alone; future research should include these comparison groups, who may experience similar challenges with school programming and access to services. It then improved somewhat as he became older, but, both as reported and observed, he continued to show a mix of autistic features and some elements of normal social functioning. The site is secure. https://doi.org/10.1177/1362361309354756, Channell, M. M., Hahn, L. J., Rosser, T., et al. In summary, the autistic features were evident only in early childhood when he was functioning at a very low mental age. Chromosomal disorders in autism Journal of Autism and Developmental Disorders 28: 427437, Article Despite this well-described co-occurrence, ASD is often diagnosed at a later age in patients with DS, if they are diagnosed at all (Howlin et al., 2008; Rasmussen et al, 2001). Child: Care, Health and Development, 38(6), 817828. American Journal of Mental Deficiency, 86(6), 567574. The median age of the respondents child with DS-ASD was 17.00years old (SD=8.37) at the time of survey completion, and 70% (n=33) of them were male. See this image and copyright information in PMC. Richards, C., Jones, C., Groves, L., et al. An initial evaluation of the social communication questionnaire for the assessment of autism spectrum disorders in children with down syndrome. -, Rachubinski AL, Hepburn S, Elias ER, Gardiner K, Shaikh TH. Psychiatric conditions prevalent among adults with Down syndrome Tass, M. J., et al., Journal of Policy and Practice in Intellectual Disabilities, 2016 Participant 4 is a very low functioning, essentially nonverbal, 21-year-old woman (with a Vineland social quotient below 20 and a MerrillPalmer ratio IQ of 25) whose behavior fell just short of meeting lifetime criteria for autism on the ADI-R in the communication domain. Unauthorized use of these marks is strictly prohibited. DiGeorge syndrome (22q11.2 deletion syndrome) - Mayo Clinic He showed some interest in other children and some limited group play, but relationships with other people were, and still are, limited to group situations. An official website of the United States government. Journal of Applied Research in Intellectual Disabilities, 21(1), 4857. His social responsiveness then gradually improved but remained impaired. British Journal of Psychiatry 155, 202 5. The identification and diagnosis of ASD in individuals with DS can be complicated by multiple factors. Disclaimer. Patterns of autism spectrum symptomatology in individuals with down syndrome without comorbid autism spectrum disorder. Autism spectrum disorder in Prader-Willi syndrome: A systematic review. Present address: Lucille Packard Childrens Hospital Stanford, Palo Alto, USA, Division of Primary Care, Department of Pediatrics, UCSF Benioff Childrens Hospital Oakland, 5220 Claremont Ave, Oakland, CA, USA, Graduate Medical Education, Department of Pediatrics, UCSF Benioff Childrens Hospital Oakland, Oakland, CA, USA, School of Medicine, University of California-Davis, Davis, CA, USA, Division of Child and Adolescent Mental Health, Department of Psychiatry, Childrens Hospital Colorado and University of Colorado, Aurora, CO, USA, You can also search for this author in The motivation for very early intervention for infants at high risk for autism spectrum disorders. Themes from survey responses, including illustrative quotes from this section of the survey, are shared in Table 3. -, Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. (2005). In this brief report, the authors explore this possibility. Parenting: Science and Practice., 1, 317337. Bethesda, MD 20894, Web Policies Her first use of single words was at 54 months and very limited use of phrases began at 84 months. & Blunden R. ( 1975 ) The epidemiology of mental subnormality. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. https://doi.org/10.1111/j.1365-2788.2010.01258.x, De Giacomo, A., & Fombonne, E. (1998). Journal of Autism and Developmental Disorders, 37(1), 6272. Thirty eight percent of participants reported feelings of isolation, which parents attributed to two major categoriesthe inability to leave the home or attend family gatherings due to the childs behavior or sensory issues and being misunderstood as bad parents in public due to their childs symptoms and behaviors. The diagnosis of autism and asperger syndrome: Findings from a survey of 770 families. Journal of Applied Research in Intellectual Disabilities, 32(5), 10471057. Journal of Intellectual Disability Research, 36(5), 449-456. JavaScript is disabled for your browser. Diagnosing Autism in Individuals with Known Genetic Syndromes: Clinical Considerations and Implications for Intervention. Eur J Pediatr. A common theme among survey respondents was that their concerns were initially dismissed, contributing to the delay in ASD diagnosis. Google Scholar, Bauman M., Kemper T. L., (2003). Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn, and behave. (2005). British Journal of Psychiatry 159, 721 3. Down Syndrome and Autism Spectrum Disorder (DS-ASD) 71 89. Developmental Medicine and Child Neurology, 43(11), 750. https://doi.org/10.1017/S0012162201001372. A simple linear regression was performed on age variables and displayed as a line plot with an adjusted R2 correlation coefficient. Quality of Life and Family Impact in Down Syndrome, Autism Spectrum Disorder, and Co-occurring Down Syndrome and Autism Spectrum Disorder. Wakabayashi S. ( 1979 ) A case of infantile autism associated with Down's syndrome. Noemi Alice Spinazzi. We are most grateful to the families who provided generous cooperation with the study. Ashworth, M., Palikara, O., & Van Herwegen, J. Delayed cognitive or learning skills. In this review, the prevalence of ASD was found to range from 12% to 41%. The recognition of autism in children with Down syndrome: Implications for intervention and some speculations about pathology Developmental Medicine and Child Neurology 37: 398414, Kent L., Evans J., Paul M., Sharp M., (1999). This is consistent with findings that the DS advantage the notion that parents of individuals with DS experience less stress and greater parenting satisfaction when compared with caregivers of children with other developmental disabilities (Hodapp et al., 2001) does not hold true when controlling for the childs adaptive behavior (Corrice & Glidden, 2009). A clinicopathological study of autism Brain 121: 889905, Article (2011). ( 1988 ) Psychiatric aspects of Down's syndrome. Autism Res. Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only. Parental concerns, provider response, and timeliness of autism spectrum disorder diagnosis. Blackwell Scientific. The UCLA-University of Utah epidemiologic survey of autism: Prevalence American Journal of Psychiatry 146: 194199, Rutter M., (1971). Early motor delays as diagnostic clues in autism spectrum disorder. De 1.729 artigos avaliados, foram selecionados 15. Volkmar F. R. & Cohen D. J. https://doi.org/10.1007/s10803-006-0129-7, Siklos, S., & Kerns, K. A. He still did not nod or shake his head, or point to express interest, and there was little use of gesture and little sharing. In this brief report, the authors explore this possibility. 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. What are common symptoms of Down syndrome? - NICHD FOIA Although he still had an intense interest in videos and cars, this had lessened somewhat and he did have a friend with whom he does activities. MMWR Surveillance Summaries, 69, 112. Reviso Sistemtica da Literatura sobre identificao precoce e diagnstico do Transtorno do Espectro Autista em pacientes com sndrome de Down. MRC Child Psychiatry Unit, University of London, , UK, Elizabeth M. Starr,Sibel Kazak Berument,Megan Tomlins,Katerina Papanikolaou&Michael Rutter, Faculty of Education, University of Windsor, N9B 3P4, Windsor, Ontario, Canada, You can also search for this author in Rutter M. & Schopler E. ( 1988 ) Autism and pervasive developmental disorders. His direct gaze used to communicate was limited as was the range of facial expressions he used to communicate, and he sometimes used inappropriate facial expressions. Before Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, down syndrome and autism spectrum disorders. Federal government websites often end in .gov or .mil. CAS 2008;16(11):13361340. Sovner R. ( 1991 ) Divalproex-responsive rapid cycling bipolar disorder in a patient with Down's syndrome: implications for the Down's syndrome mania hypothesis. 2005 Oct;72(10):859-64. doi: 10.1007/BF02731116. Journal of Pediatrics, 161, 554556. The down syndrome advantage: Fact or fiction? doi: 10.1002/pd.4957. People with ASD present with a broad range of traits and can seem. Journal of Childhood Schizophrenia 6, 109 20. HHS Vulnerability Disclosure, Help https://doi.org/10.1111/j.1365-2214.2011.01312.x, Kraijer, D., & de Bildt, A. Epilepsy Behav. An official website of the United States government. 2008 Jan;21(1):48-57. doi: 10.1111/j.1468-3148.2007.00368.x. Journal of Neurodevelopmental Disorders, 7(1), 5. https://doi.org/10.1186/1866-1955-7-5, Chawarska, K., Paul, R., Klin, A., et al. Anyone you share the following link with will be able to read this content: Sorry, a shareable link is not currently available for this article. He responded to his name being called, but only on the third or fourth press. Autism Spectrum Disorder (ASD), also simply called Autism, is a marked by differences in communication, play, sensory processing, interests, and behaviour. One recent study found that up to 50% of children with . volume35,pages 665673 (2005)Cite this article. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. Unable to load your collection due to an error, Unable to load your delegates due to an error. & Gumley D. ( 1986 ) Behaviour problems in retarded children with special reference to Down's syndrome. He also pointed to express interest, but did so in a limited way. Journal of Intellectual Disability Research, 54(3), 266280. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Though some studies have shown that developmental regression associated with ASD occurs later in children with DS compared to children without DS (Castillo et al, 2008; Warner et al, 2014), other factors, such as decreased awareness of DS-ASD, differences in ASD symptomatology, and diagnostic overshadowing, can lead to a later diagnosis. Relationship between age of recognition of first disturbances and severity in young children with autism. , http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1458002&dopt=citation. Rutter , M., Andersen-Wood L., Beckett C., Bredenkamp D., Castle J., Groothues C., Kreppner J., Keaveney L., Lord C., OConner T. G., & the English, Romanian Adoptees (ERA) Study Team, (1999). Behavioral treatment and normal educational and intellectual functioning in young autistic children. Parental reports in the survey correlated well with published findings on DS-ASD, further supporting the notion that parental concerns should not be ignored or dismissed. (2010). Tourettism in a patient with Down's syndrome. Children with DS-ASD are a relatively understudied patient population, and this study offers valuable insight into their families lives. destacada a importncia de procedimentos de triagem de sinais precoces de risco de autismo ainda no primeiro ano de vida. Children with DS-ASD in our study were diagnosed at an average age of 8.52years, which is several years older than the reported average age at diagnosis of 56years in idiopathic ASD (Howlin & Moore, 1997; Mandell et al, 2010; Siklos & Kerns, 2007). Gillberg C., Persson E., Grufman N. & Themner U. Unusual eating and sleeping habits. More information at Remediation of Harmful Language. If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you. Fleiss, J. L., Levin, B., & Paik, M. C. (2003). https://doi.org/10.1023/A:1005592401947, Lovaas, O. I. NIMH Autism Spectrum Disorder In: Assessment and Diagnosis in Child Psychopathology, M. Rutter, A. H. Tuma & I. S. Lann ( eds ), pp. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. Correspondence to 1155 15th Street NW Along with the medical assessment, parents will be asked to complete a checklist to aid in diagnosis. Diagnostic and Statistical Manual of Mental Disorders (DSM-V) 5. The survey solicited very limited demographic data, which affects the generalizability of its findings. 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. Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: Epidemiological aspects British Journal of Psychiatry 149: 6874, Gillberg C., Whlstrom J., (1985). The disorder also includes limited and repetitive patterns of behavior. International Universities Press. through A.3. ASD-like symptoms are also more frequently seen in individuals with DS without a co-morbid ASD diagnosis than in the neurotypical population (Channell et al, 2015), which may lead providers to believe that their patients neurocognitive profile is solely attributable to intellectual disability, rather than suspecting an additional diagnosis of ASD (Howlin et al, 2008; Reiss et al., 1982). This study is the first to look at perspectives of caregivers with a child with DS-ASD. The overlap of symptoms between the intellectual disability and ASD can cause a diagnostic dilemma for providers (Howlin et al, 2008; Reiss et al, 1982); for example, many children with DS and more severe intellectual disability have stereotyped behaviors (Channell et al, 2015; Kraijer & de Bildt, 2005). https://doi.org/10.1007/s10803-022-05758-x, DOI: https://doi.org/10.1007/s10803-022-05758-x. During the administration of the A-PL-ADOS, on which she met criteria, she did not direct any words or vocalizations to the examiner, did not point, give any objects to the examiner, use gestures, or engage in social smiling. Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis. (2009). NAS analyzed initial focus group data; assisted in conceptualizing and designing the study; assisted in coordinating data collection and analysis; contributed to writing and reviewing the manuscript, and revised it in response to reviewers' comments. Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification Journal of Autism and Developmental Disorders 9: 1129. Would you like email updates of new search results? In addition, he had an inconsistent direct gaze, limited social smiling, showed a limited response to the approaches of other children, and had some inappropriateness in his facial expressions. They propose that a systematic study of the association of these two conditions may have implications on research and clinical practice. https://doi.org/10.1177/1362361312442790, Oxelgren, U. W., berg, M., Myrelid, ., et al. General themes were identified for each survey item that required qualitative interpretation of parent responses. Autistic social dysfunction and Down syndrome Journal of the American Academy of Child and Adolescent Psychiatry 27: 440441, Article Autism, 1(2), 135162. In Bouras N., (Ed. Stanford, CA 94305, Tel: +1 (650) 725-1827 MMWR Surveill Summ. Parenting stress and coping styles in mothers and fathers of pre-school children with autism and down syndrome. 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. Of note, the characteristics that were identified as differentiating children with DS-ASD from other children with DS only, as articulated by survey respondents, are consistent with scoring algorithm items on the Autism Diagnostic Observation Schedule (ADOS)the gold standard diagnostic tool for diagnosing ASD in the general community (Lord et al, 2000). The recognition of autism in children with down syndrome-implications for intervention and some speculations about pathology. Unable to load your collection due to an error, Unable to load your delegates due to an error. ASD is a developmental disability. In our survey, parents also frequently reported significant communication difficulties, consistent with findings that individuals with DS-ASD have poorer receptive and expressive language abilities and more inappropriate speech than those with DS alone (Magyar et al., 2012; Molloy et al, 2009). Stereotypy, severe communication impairments, and behavioral difficulties prompted caregivers to pursue further evaluation. Although she did make some social overtures and responses, with some limited eye contact and facial expression, she was impaired in both her social overtures and responses. Olsen, D. Peterson, M., Stukenholtz, B., Talib, N. (2021), National Down SyndromeSociety Conflict of interest: There is no conflict of interest to declare. A., Pueschel S. M., (1991). https://doi.org/10.1016/j.ijporl.2018.10.044. Less stress, more rewarding: parenting children with down syndrome. Many reported that caring for their child was exceedingly time consuming and required a career change. (2007). The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). https://doi.org/10.1111/jir.12344, Warner, G., Moss, J., Smith, P., et al. Gath A. Autism in Down's syndrome: presentation and diagnosis Authors M Ghaziuddin 1 , L Y Tsai , N Ghaziuddin Affiliation 1 Division of Child and Adolescent Psychiatry, University of Michigan, Ann Arbor 48109-0390. Down Syndrome and Autism Spectrum Disorder Dual Diagnosis: Important He did point to express interest at the age of 45 and used some conventional gestures. American Journal of Psychiatry 147, 734 9. As a child, she is said to have showed normal eye-to-eye gaze and much social smiling, she did not offer to share objects, did not share her own enjoyment of things with others, or imitate actions. Anxiety, stress, or excessive worry. Autism - Down Syndrome Resource Foundation Spinazzi, N.A., Velasco, A.B., Wodecki, D.J. For many of the participants, the journey to a dual diagnosis involved interactions with multiple providers, educators, and therapists before finding one who was able to recognize the signs of ASD and evaluate them; this highlights a lack of awareness of DS-ASD, and suggests the need for education, especially for primary care providers and educators, who are often the first to hear parental concerns. Her social overtures and social responses showed many normal qualities, but they were not well coordinated. Acta Psychiatrica Scandinavica 78, 369 74. (Mon-Fri, 9AM ET- 5PM ET), Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis - PubMed (nih.gov). The National Autistic Society point out that the definitionof ASD has changed over the years and that it may continue to do so as understanding ofthe condition continues to develop. Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. Epidemiological surveys of autism and other pervasive developmental disorders: An update Journal of Autism and Developmental Disorders 33: 365382, Gath A., Gumley D., (1986). "Autism in Down's syndrome: presentation and diagnosis." However, he did engage in social smiling, offered comfort, and coordinated eye gaze with vocalization appropriately when he was trying to secure help. (2005). Top Lang Disord. 2017 Sep;176(9):1259-1262. doi: 10.1007/s00431-017-2951-7. New York: Wiley. Fonte de dados: Busca nas bases BVS, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science e Embase e avaliao pelo PRISMA. Although limited in quality and amount, he did use eye contact for social interaction, and directed some facial expressions and vocalizations toward the examiner. The symptoms of Down syndrome vary from person to person, and people with Down syndrome may have different problems at different times of their lives. ), Psychiatric and behavioral disorders in developmental disabilities and mental retardation. ( 1986 ) Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: Epidemiological aspects. When autism occurs in someone with Down syndrome, the characteristics of autism (social and behavioral challenges, communication difficulties and restricted interests) may be observed in addition to the symptoms of Down syndrome (intellectual disability, speech and language delays). Method: Comprehensive evaluations for autism were conducted in 20 2-year-old children with Down syndrome. According to research from the NIH(*), 16% of children with Down syndrome have a dual diagnosis of autism. He had always indicated his needs by physically pulling someone to what he wanted but he had never used their arm or hand as a tool. Differences in the clinical presentation of Trisomy 21 with and without autism. The site is secure. This deletion results in the poor development of several body systems. Her ability to point for the purpose of expressing interest has always been limited. PMC Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: Epidemiological aspects. Hearing loss, hypotonia, and visual impairment, all of which occur with high incidence in individuals with DS, may also affect language and social development (DiGuiseppi et al, 2010; Rasmussen, 2001). During the administration of the A-PL-ADOS he participated fully, demonstrating no indications of autistic behavior, other than a lack of coordination in eye contact and vocalization when a press for joint attention was presented. hand flapping, stimming, head banging), perseverative behavior (e.g. The autism diagnostic experiences of French parents. Department of Biology During the administration of the A-PL-ADOS, he rarely vocalized, did not give anything to the examiner, or initiate any joint attention when a press was provided. Book The familial risk of autism. https://doi.org/10.1016/j.ridd.2019.03.003, Goin-Kochel, R. P., Mackintosh, V. H., & Myers, B. J. Correspondence to Provided by the Springer Nature SharedIt content-sharing initiative, Journal of Autism and Developmental Disorders, https://doi.org/10.1007/s10803-005-0010-0, access via playing with same toy over and over). The term "spectrum" refers to the wide range of symptoms, skills, and levels of ability in functioning that can occur in people with ASD. Int Rev Res Dev Disabil. -. (2001). Personality stereotype of noninstitutionalized down syndrome children. https://doi.org/10.1002/ajmg.a.30622, Carter, J. C., Capone, G. T., Gray, R. M., et al. Aim. 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. Characteristics associated with autism spectrum disorder risk in individuals with down syndrome. The survey results highlight the value of adequate respite services for children with DS-ASD. Google Scholar, Fountain, C., King, M. D., & Bearman, P. S. (2011). Estimates of prevalence range broadly from 5 to 39% (Capone et al, 2005; DiGuiseppi et al, 2010; Hepburn et al, 2008; Lowenthal et al, 2007; Moss et al, 2013; Richards et al, 2015; Starr et al., 2005), depending on the assessment procedures and diagnostic criteria used.
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autism in down's syndrome: presentation and diagnosis 2023