Autism and Down syndrome: early identification and diagnosis

Diniz, Natália Lisce Fioravante; Parlato-Oliveira, Érika; Pimenta, Priscila Gonçalves Ayres; Araújo, Liubiana Arantes de; Valadares, Eugênia Ribeiro

doi:10.1590/0004-282x-anp-2021-0156

Cited by 9 publications

(8 citation statements)

References 46 publications

(143 reference statements)

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“…ASD was diagnosed by expert clinicians using the Diagnostic Statistical Manual (DSM)- 5 diagnostic criteria, with particular attention to criterion E, which requires that symptoms not be due to intellectual disability or global developmental delay. Clinician diagnostic certainty has been shown to be the best predictor of ASD [ 20 ], and according to a recently published systematic review [ 21 ], the DSM is the diagnostic criteria most used as a reference in diagnosing ASD in patients with DS [ 20 ]. In this cohort, only 29 patients had ever been evaluated with the Autism Diagnostic Observation Schedule (ADOS), with detailed results only available for 4 individuals.…”

Section: Methodsmentioning

confidence: 99%

“…In this cohort, only 29 patients had ever been evaluated with the Autism Diagnostic Observation Schedule (ADOS), with detailed results only available for 4 individuals. Analysis was restricted to patients 3 years and older ( N = 562) for several reasons: no children younger than 3 in the sample were given a diagnosis of ASD; it is not yet clear that ASD can be reliably diagnosed clinically in toddlers with DS and co-existing developmental delays [ 4 ] (unlike children without DS, in whom ASD can generally be diagnosed by 18–24 months of age) [ 22 ]; and ASD is often diagnosed later in children with DS [ 21 ].…”

Section: Methodsmentioning

confidence: 99%

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Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Spinazzi

Santoro

Pawlowski

et al. 2023

J Neurodevelop Disord

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Background Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. Methods A single-center retrospective review of prospective longitudinally collected clinical data was performed. Any patient with a confirmed diagnosis of DS evaluated at a large, specialized Down Syndrome Program in a tertiary pediatric medical center between March 2018 and March 2022 was included. A standardized survey which included demographic and clinical questions was administered during each clinical evaluation. Results In total, 562 individuals with DS were included. The median age was 10 years (IQR: 6.18–13.92). Of this group, 72 (13%) had a co-occurring diagnosis of ASD (DS+ASD). Individuals with DS+ASD were more likely to be male (OR 2.23, CI 1.29–3.84) and had higher odds of a current or prior diagnosis of constipation (OR 2.19, CI 1.31–3.65), gastroesophageal reflux (OR 1.91, CI 1.14–3.21), behavioral feeding difficulties (OR 2.71, CI 1.02–7.19), infantile spasms (OR 6.03, CI 1.79–20.34) and scoliosis (OR 2.73, CI 1.16–6.40). There were lower odds of congenital heart disease in the DS+ASD group (OR 0.56, CI 0.34–0.93). There was no observed difference in prematurity or Neonatal Intensive Care Unit complications between groups. Individuals with DS+ASD had similar odds of having a history of congenital heart defect requiring surgery to those with DS only. Furthermore, there was no difference in rates of autoimmune thyroiditis or celiac disease. There was also no difference in rates of diagnosed co-occurring neurodevelopmental or mental health conditions in this cohort, including anxiety disorders and attention-deficit/hyperactivity disorder. Conclusions This study identifies a variety of medical conditions which are more frequent in children with DS+ASD than DS alone, providing important information for the clinical management of these patients. Future research should investigate the role of some of these medical conditions in the development of ASD phenotypes, and whether there may be distinct genetic and metabolic contributions towards these conditions.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Spinazzi

Santoro

Pawlowski

et al. 2023

J Neurodevelop Disord

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“…For participants ages 3 years and older only, we assessed overall “ ever diagnosed ” frequencies of clinician‐reported co‐occurring ND (ASD, ADHD) and MH conditions (depression, anxiety/obsessive compulsive disorder [OCD], unexplained regression/catatonia, and psychosis). In line with previous research on co‐occurring ASD that has already been conducted with this cohort (Spinazzi et al, 2023), analyses were restricted to participants age 3 years and older because reliable identification and diagnosis of ND and MH conditions has not yet been established for young children with DS (Diniz et al, 2022; Hepburn et al, 2007).…”

Section: Methodsmentioning

confidence: 99%

Co‐occurring conditions in Down syndrome: Findings from a clinical database

Baumer,

Hojlo,

Pawlowski

et al. 2023

American J of Med Genetics Pt C

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Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver‐ and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co‐occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention‐deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co‐occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.

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“…Individuals with Down syndrome (DS) are at an increased risk of having a secondary diagnosis of autism spectrum disorder compared with the general population. 1a,2a,3a In recognition of this fact, the 2022 health supervision guidelines for children and adolescents with DS specifically recommend screening between 18 and 24 months, identifying phenotypic differences between those with DS and those with a dual diagnosis of Down syndrome and autism spectrum disorder (DS+ASD) and clarifying the pitfalls of diagnostic overshadowing given the existing developmental delays expected in this genetic condition. 4a In addition, these guidelines offer information and monitoring recommendations for medical comorbidities that occur with higher frequency in DS, some of which are known to contribute to significant changes in behavior, including self-injury.…”

Section: Lina Patel Psydmentioning

confidence: 99%

Access to Care Limitations: When Distance and Lack of Evidence Meet

Olsen,

Patel,

Spinazzi

et al. 2023

J Dev Behav Pediatr

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CASE: Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome. At age 4, his parents raised concerns about his limited language, strong preference to be alone, and refusal to leave the house. Parents had observed his marked startle response to loud laughter and adult male voices. At age 7, his preferred activities consisted of dangling necklaces or shoelaces in front of his face and rocking his body forward and backward when seated. After limited progress in special education, speech, and occupational therapies, he was referred, at age 8, to a specialty center 3 hours from his home for a multidisciplinary evaluation. There, he received a diagnosis of co-occurring autism spectrum disorder (ASD). Over the last year, his repetitive behaviors have become more intense. He hits the side of his head with his fist and presses his thumbs into his eyes, causing bruising. Any attempts to remove his dangle objects are met with aggressive behaviors, including hitting, kicking, scratching, and elopement. At school, he refuses to complete work and sometimes hits his teacher. Aggression stops in the absence of educational demands. School staff informed parents they are not equipped to handle Jimmy's behaviors. Jimmy recently presented to the specialty center for developmental-behavioral pediatric and psychology support at the request of his primary care clinician. The developmental pediatrician discussed with Jimmy's parents the possibility of a trial of medication to address disruptive/aggressive behavior if there is not improvement with initiation of behavioral strategies. The psychologist began weekly behavioral parent training visits through telehealth, including prevention strategies, reinforcement, and functional communication training. The strategies have helped decrease the frequency of elopement and aggressive behaviors. Self-injurious behaviors and refusal at school have remained constant. Despite some stabilization, limited local resources as well as the lack of evidence-based guidelines for people with both Down syndrome and ASD have impeded improvements in Jimmy's significant behavioral and developmental challenges. His parents have become increasingly isolated from critical family and community support as well. In what ways could the clinicians and community support this child and his family and prevent others from experiencing similar hardships?

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Autism and Down syndrome: early identification and diagnosis

Cited by 9 publications

References 46 publications

Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Co-occurring conditions in children with Down syndrome and autism: a retrospective study

Co‐occurring conditions in Down syndrome: Findings from a clinical database

Access to Care Limitations: When Distance and Lack of Evidence Meet

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