Reiss, S., Levitan, G. W., & Szyszko, J. The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? Although limited in quality and amount, he did use eye contact for social interaction, and directed some facial expressions and vocalizations toward the examiner. Participant 5 is a nonverbal 10-year-old boy, who was untestable in terms of an intellectual assessment and showed profoundly retarded social functioning, who did not quite meet lifetime criteria on the ADI-R but did meet A-PL-ADOS criteria for autism. Parental recognition of developmental problems in toddlers with autism spectrum disorders. 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. Between the ages of 4 and 5years his social interactions and use of vocalizations were both very limited but he would smile in response to others, showed normal eye gaze, and would hold other children affectionately, but not join in group play. Journal of Childhood Schizophrenia 6, 109 20. Would you like email updates of new search results? Autistic disorders in down syndrome: Background factors and clinical correlates. Autism in Down's syndrome: presentation and diagnosis The https:// ensures that you are connecting to the 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). Psychiatric conditions prevalent among adults with Down syndrome Tass, M. J., et al., Journal of Policy and Practice in Intellectual Disabilities, 2016 Diagnosis in autism: A survey of over 1200 patients in the UK. He lives with his parents andattends an educational programme for trainable (moderately) mentally retardedchildren. 2009 Apr;29(2):112-132. doi: 10.1097/tld.0b013e3181a71fe1. https://doi.org/10.1007/s10803-005-5040-0, Lord, C., Risi, S., Lambrecht, L., et al. https://doi.org/10.1097/DBP.0b013e318240d3d9, Mandell, D. S., Morales, K. H., Xie, M., et al. See this image and copyright information in PMC. Brief Report: Autism in Individuals with Down Syndrome Blackwell Scientific. Thanks to Dr Brian Belden, MD, for spearheading the establishmen t of the Workgroup, and for assisting in the coding of survey responses. Autism needs to be considered in children with Down Syndrome Participants in our study may not be representative of parents in the general population, as they needed to read and write in English, be members of the DS-ASD connection (the online support group where participants were recruited) and have access to the internet to complete the survey. (2007). 2020;69(4):112. Autism characteristics and behavioural disturbances in ~500 children with downs syndrome in England and Wales. Participants were 40 males and 38 females with DS, aged 6 to 23 years. The results are subject to significant selection bias, as all respondents were members of a support group who may have sought out an online community to cope with more challenging parenting experiences. By the age of 11, however, he had improved significantly in terms of social interaction and communication in that he now smiled socially, pointed, gestured freely, vocalized in a social way, offered to share, showed and directed attention to objects in which he was interested, had a range of facial expression, offered comfort to others, and responded to the approaches of others. The survey specifically inquired about the age at which the individual had been diagnosed with ASD, what type of professional made the diagnosis, and how the diagnosis was obtained (i.e. Google Scholar, Gillberg C., Persson E., Grufman M., Themner U., (1986). (2005). For example, a child with the dual diagnosis of Down's syndrome and autism may be better placed in a programme which incorporates a structured routine taking his or her autistic tendencies into consideration, than in one meant essentially for children with Down's syndrome. Age-related questions were analyzed quantitatively. Figure 1.. Flow of studies included in the review - PRISMA (Preferred Reporting Items for, MeSH Ghaziuddin M & Tsai L. ( 1991 ) Depression in autistic disorders. This study is the first to look at perspectives of caregivers with a child with DS-ASD. Google Scholar, Baghdadli, A., Picot, M. C., Pascal, C., et al. ASD is a developmental disability. (2007). Journal of Autism and Developmental Disorders, 30(3), 205223. Autism - Down Syndrome Resource Foundation O diagnstico de autismo na sndrome de Down subestimado, sendo necessrio entender quais aspectos do fentipo comportamental esto relacionados sndrome de Down e quais so do autismo. *Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis - PubMed (nih.gov), Down Syndrome and Autism Spectrum Disorder: A Look at What We Know. treatment Doctors & departments Diagnosis The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age. It is difficult to determine the prevalence of autism among children and adults with Down syndrome for many reasons. Multiple clinicians independently coded the data, and interrater concordance kappa statistic (Fleiss, Levin & Paik, 2003) was 0.92; all divergences in coding were reviewed as a group with consensus reached after reviewing each case. JavaScript is disabled for your browser. , http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1458002&dopt=citation. Autism Diagnostic Observation Schedule: A standardized observation of communicative and social behavior Journal of Autism and Developmental Disorders 19: 185212, Lord C., Rutter M., Le Couteur A., (1994). To maintain anonymity, the survey had to be completed in a single session; partially completed surveys could be submitted. Profiles of children with down syndrome who meet screening criteria for autism spectrum disorder (ASD): A comparison with children diagnosed with ASD attending specialist schools. https://doi.org/10.1177/10598405050210010901, Maenner, M. J., Shaw, K. A., Baio, J., et al. Our sample size was small, with only 47 survey meeting inclusion criteria. Journal of Autism and Developmental Disorders, 49(9), 35433556. Unauthorized use of these marks is strictly prohibited. Autism spectrum disorder and epilepsy: Disorders with a shared biology. -. JAMA. The most commonly reported initial concerns were stereotypic behaviors (n=24, 53%), which included repetitive behaviors (e.g. Themes from survey responses, including illustrative quotes from this section of the survey, are shared in Table 3. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The .gov means its official. Psychiatric aspects of Downs syndrome Acta Psychiatrica Scandinavia 78: 369374, Article At this age he showed no imaginative play or interest in other children, nor did he engage in group play. (2015). For the remaining surveys, each question was analyzed independently, regardless of whether the respondent skipped other questions in the survey. Google Scholar. Characteristics may be detected in early childhood, but autism is often not diagnosed until much later. Caregivers expressed frustration and described high levels of stress and social isolation. Some examples of parent-reported strengths in their child included affection, compassion, and perseverance. Plenum Press, New York, NY. Down Syndrome: Signs, Symptoms, and Characteristics - Verywell Health Rutter, M., (2005). Psychological Corporation, New York, NY. Lack of interest in social relationships and poor shared attention (n=22, 49%), as well as communication deficits (n=18, 40%), were also frequently observed in the early years. Disclaimer: The information provided is intended to be informative and educational and is not a replacement for professional medical evaluation, advice, diagnosis or treatment by a healthcare professional. Indian J Pediatr. J Intellect Disabil Res. It also substantiates prior research showing that children dually diagnosed with DS-ASD experience greater challenges with behavior, adaptive functioning, and communication than children with DS alone (Magyar et al, 2012; Molloy et al, 2009). About one in 100 children has autism. The recognition of autism in children with down syndrome-implications for intervention and some speculations about pathology. This age gap is greater than the one reported in a United States- based survey of caregivers of individuals with idiopathic ASD, which found that the mean delay between the first conversation with a provider and diagnosis of ASD was 2.70years (Zuckerman et al, 2015). Research in Developmental Disabilities, 28(1), 922. Diagnostic Criteria for 299.00 Autism Spectrum Disorder. Washington, DC 20005, Telephone: 800-221-4602 Most participants expressed their initial concerns to the childs primary care provider (PCP) (n=22, 47%) or professionals in the education/therapeutic fields (n=27, 57%) such as teachers, speech/ physical/ occupational therapists, and early intervention specialists. 2023 Apr 1;44(3):e185-e195. All survey respondents were able to identify at least one strength in their child, but the responses were too diverse to categorize. Anxiety, stress, or excessive worry. through A.3. Diagnostic Criteria | Autism Spectrum Disorder (ASD) | NCBDDD | CDC Neuropathology of the autism spectrum disorders: What have we learned? This was done to maximize the sample size for each independent question and resulted in different sample sizes for each question. GHAZIUDDIN, M.; TSAI, L. Y.; GHAZIUDDIN, N. (1992). He still did not nod or shake his head, or point to express interest, and there was little use of gesture and little sharing. Prevalence of autism spectrum disorder among children aged 8 years autism and developmental disabilities monitoring network, sites, United States, 2016. (1994). Of those who expressed their initial concerns to their primary care provider, 82% (n=18) felt that their provider did not have the knowledge or experience with DS-ASD to further guide them (Table 2). 1). The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. 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. Several therapeutic interventions were identified as beneficial, including behavioral and communication support. European Child and Adolescent Psychiatry, 12(3), 122127. 1536). Relationship between age of recognition of first disturbances and severity in young children with autism. While the open-ended format of the survey questions allowed respondents to freely express themselves, it also introduced the potential for bias in the process of grouping responses into categories. She has never used another persons hand to communicate. Caregivers yearn for improved understanding of DS-ASD, more targeted therapies and educational programs, and more overall support. De 1.729 artigos avaliados, foram selecionados 15. British Journal of Psychiatry, 149(1), 6874. Journal of Mental Deficiency Research 35, 17l 3. Surveys were excluded from analysis if the responses to questions related to the diagnostic process indicated that the individual with DS had not actually received a formal diagnosis of ASD, or if the caregiver only answered demographic questions. DJW carried out the statistical analyses and produced the tables and figures for the paper. Assessing need for social support in parents of children with autism and down syndrome. Down syndrome and comorbid autism-spectrum disorder: Characterization using the aberrant behavior checklist. Adolescent psychiatry; Modern approaches, 2nd Edition (2nd ed.). Parenting stress and coping styles in mothers and fathers of pre-school children with autism and down syndrome. According to research from the NIH(*), 16% of children with Down syndrome have a dual diagnosis of autism. When asked about interventions that had been helpful for their child, 37% (n=16) of respondents mentioned Applied Behavioral Analysis (ABA) therapy; 35% (n=15) listed therapeutic services (including speech, physical, and occupational therapy); and 14% (n=6) referenced specialized DS or autism centers. The use of qualitative coding and theme analysis enabled a detailed and nuanced view of family perspectives. PubMed 2017;37(1):3136. Guide for administering the MerrillPalmer Scale of Mental Tests Harcourt, Brace and WorldNew York, Wakabayashi S., (1979). Journal of Intellectual Disability Research, 54(3), 266280. MMWR Surveillance Summaries, 69, 112. Journal of Autism and Developmental Disorders. Autism and congenital blindness Journal of Autism and Developmental Disorders 29: 4556, Howlin P., Wing L., Gould J., (1995). Federal government websites often end in .gov or .mil. All authors participated meaningfully to the preparation of the manuscript. American Journal on Intellectual and Developmental Disabilities, 114(4), 254268. Cambridge University Press, Cambridge. National Library of Medicine Statistical methods for rates and proportions (3rd ed.). A survey was developed by the ASD workgroup of the Down Syndrome Medical Interest GroupUSA (DSMIG-USA) (Supplemental Information 1). PMID: 1458002 DOI: 10.1111/j.1365-2788.1992.tb00563.x Abstract Along with the medical assessment, parents will be asked to complete a checklist to aid in diagnosis. Participant 3 is a 29-year-old verbal man with a Vineland social quotient below 20 and a MerrillPalmer ratio IQ of 48. However, he did engage in social smiling, offered comfort, and coordinated eye gaze with vocalization appropriately when he was trying to secure help. (2012). This study aimed to learn about the experiences of families of individuals with a dual diagnosis of Down syndrome (DS) and autism spectrum disorder (ASD) (DS-ASD), and to document the journey from early concerns to diagnosis and intervention. 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. (Mon-Fri, 9AM ET- 5PM ET), Prevalence of autism spectrum disorder phenomenology in genetic disorders: a systematic review and meta-analysis - PubMed (nih.gov). Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers. At the age of 45, she is said to have responded appropriately to the approaches of others, to have used direct gaze and smiling (which she still does), but there was a limited range of facial expression, little or no imaginative play or imitative social play. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2016. Delayed cognitive or learning skills. He brought or showed some things to other people, but these were associated with a need for help, or his pre-occupations, rather than simply for the purpose of sharing. Kent et al. The site is secure. 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. She did respond readily to her name being called, however, and demonstrated a limited range of facial expressions. He did not spontaneously imitate the actions of others, point to express interest, nod or shake his head or use other gestures, nor did he seek to share his own enjoyment with others and did not show things to others. Hyperactive, impulsive, and/or inattentive behavior. A comprehensive medical history and physical examination are mandatory to rule out other reasons for the behavior. Stanford, CA 94305, Tel: +1 (650) 725-1827 https://doi.org/10.1016/S2215-0366(15)00376-4. Disclaimer. ABSTRACT. 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. Developmental Medicine and Child Neurology, 37(5), 406414. 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. Bethesda, MD 20894, Web Policies Background: Research suggests that children with Down syndrome may be at increased risk of having an autism spectrum disorder; however, previous studies have not utilized comprehensive, state-of-the-art diagnostic tools to address the question of comorbid autism and Down syndrome. Journal of Child Psychology and Psychiatry, 40, 537549, Smalley S. L., (1998). Caregivers completed an online survey describing their journey raising a child with DS-ASD. In F. Volkmar, A. Klin, & R. Paul (Eds. Method: Comprehensive evaluations for autism were conducted in 20 2-year-old children with Down syndrome. Journal of Applied Research in Intellectual Disabilities, 32(5), 10471057. Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: Epidemiological aspects. (2017). International Universities Press. It should be noted that this finding could have been confounded by the wide age range of individuals with DS-ASD at the time that the survey was completed. (2019). https://doi.org/10.1192/bjp.149.1.68, Godfrey, M., Hepburn, S., Fidler, D. J., et al. Autism Spectrum Disorder | National Institute of Neurological Disorders We have collected and analyzed data from clinical medical evaluations, psychological and behavioral testing, and MRI scans of the brain. 2020 Apr;41(3):172-179. doi: 10.1097/DBP.0000000000000745. Dual Diagnosis of Down Syndrome and Autism 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). Genetic influences in autism. Downs syndrome children growing up: A longitudinal perspective Cambridge University Press Cambridge, Chess S., (1971). It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Many respondents mentioned feeling a like they did not belong within either the DS or the ASD communities. ASD affects every person differently; some may have only a few symptoms and signs while others have many. Starr, E.M., Berument, S.K., Tomlins, M. et al. Autism symptoms in toddlers with down syndrome: A descriptive study. Journal of Pediatrics, 161, 554556. 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.