Prevalence of Down Syndrome Among Children and Adolescents in 10 Regions of the United States

Shin, Mikyong; Besser, Lilah M.; Kucik, James E.; Lu, Chengxing; Siffel, Csaba; Correa, Adolfo

doi:10.1542/peds.2009-0745

Cited by 228 publications

(184 citation statements)

References 24 publications

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Section: Actbmentioning

confidence: 99%

“…1 The condition is characterized by decline of IQ during the infant and toddler years, well-documented deficits in the assimilation and expressive use of language, and impairments in cognitive flexibility and memory. 2 As a result of alterations in craniofacial and oral musculature development and low muscle tone, individuals with Down syndrome are exceptionally vulnerable to obstructive sleep apnea syndrome (OSAS) from infancy, with estimates of the prevalence of the condition ranging from 30% to as high as 80%.…”

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confidence: 99%

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Obstructive sleep apnea syndrome and cognition in Down syndrome

Breslin

Spanò

Bootzin

et al. 2014

Develop Med Child Neuro

181

174

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ACTBArizona Cognitive Test Battery AHI Apnea-hypopnea index IED Intra-extra dimensional set shift OSAS Obstructive sleep apnea syndrome PSG PolysomnographyAIM Good-quality sleep is essential for normal learning and memory. Sleep fragmentation and disrupted sleep architecture are commonly observed throughout the lifespan of individuals with Down syndrome, a condition marked by cognitive deficits emerging within the first few months of life. While obstructive sleep apnea syndrome (OSAS) is known to contribute to the loss of sleep quality in Down syndrome, its relation to cognitive and behavioral impairment remains poorly understood.METHOD Using ambulatory polysomnography, we measured sleep in an unreferred community-based sample of 38 individuals with Down syndrome (15 males, 23 females; mean age 9y 7mo (SD 1y 9mo), range 7-12y). Cognitive outcomes were assessed with the Arizona Cognitive Test Battery, a set of psychometric measures designed and validated for this population.RESULTS Among children with Down syndrome, mean Verbal IQ score (p=0.006) was 9 points lower in those with comorbid OSAS (apnea-hypopnea index >1.5) than in those without OSAS, and performance on measures of cognitive flexibility was poorer (p=0.03). In addition, those with OSAS showed increased light-stage sleep (p=0.009) at the expense of slow-wave sleep (p=0.04).INTERPRETATION These findings demonstrate a relation between OSAS and cognitive outcomes in Down syndrome. More work is required to fully understand the mechanisms underlying the links between poor sleep and impaired cognitive function. Overall, these findings highlight the importance of adequate sleep in typically and atypically developing populations.Down syndrome (trisomy 21) is the most common genetically defined cause of intellectual disability, with over 300 000 affected individuals residing in the United States alone. 1 The condition is characterized by decline of IQ during the infant and toddler years, well-documented deficits in the assimilation and expressive use of language, and impairments in cognitive flexibility and memory.2 As a result of alterations in craniofacial and oral musculature development and low muscle tone, individuals with Down syndrome are exceptionally vulnerable to obstructive sleep apnea syndrome (OSAS) from infancy, with estimates of the prevalence of the condition ranging from 30% to as high as 80%. [3][4][5] Ashworth et al. 6 have recently described the extent of sleep disruption in individuals with Down syndrome, noting that such individuals displayed more fragmented sleep than those with Williams syndrome, another intellectual disability. Because of the extent of their sleep disruption, individuals with Down syndrome could potentially suffer ill effects during critical periods of cognitive development.OSAS occurs when the upper airway becomes intermittently obstructed during sleep, resulting in incomplete ventilation, blood gas irregularities, and sleep fragmentation. It is best diagnosed with polysomnography (PSG), the criterion standard for sle...

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Section: Actbmentioning

confidence: 99%

mentioning

confidence: 99%

Obstructive sleep apnea syndrome and cognition in Down syndrome

Breslin

Spanò

Bootzin

et al. 2014

Develop Med Child Neuro

181

174

View full text Add to dashboard Cite

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“…Down syndrome (DS) is the most common genetic cause of intellectual disability (Shin et al, 2009) and is primarily caused by prenatal changes in central nervous system growth and differentiation (Lott, 2012;Haydar and Reeves, 2012). However, in later life stages, the cognitive abilities of DS individuals progressively decline due to accelerated aging and to the development of Alzheimer's disease (AD) neuropathology.…”

Section: Introductionmentioning

confidence: 99%

Normalizing the gene dosage of Dyrk1A in a mouse model of Down syndrome rescues several Alzheimer's disease phenotypes

García-Cerro

Rueda

Vidal

et al. 2017

Neurobiology of Disease

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The intellectual disability that characterizes Down syndrome (DS) is primarily caused by prenatal changes in central nervous system growth and differentiation. However, in later life stages, the cognitive abilities of DS individuals progressively decline due to accelerated aging and the development of Alzheimer's disease (AD) neuropathology. The AD neuropathology in DS has been related to the overexpression of several genes encoded by Hsa21 including DYRK1A (dualspecificity tyrosine-(Y)-phosphorylation regulated kinase 1A), which encodes a protein kinase that performs crucial functions in the regulation of multiple signaling pathways that contribute to normal brain development and adult brain physiology. Studies performed in vitro and in vivo in animal models overexpressing this gene have demonstrated that the DYRK1A gene also plays a crucial role in several neurodegenerative processes found in DS. The Ts65Dn (TS) mouse bears a partial triplication of several Hsa21 orthologous genes, including Dyrk1A, and replicates many DS-like abnormalities, including age-dependent cognitive decline, cholinergic neuron degeneration, increased levels of APP and Aβ, and tau hyperphosphorylation. To use a more direct approach to evaluate the role of the gene dosage of Dyrk1A on the neurodegenerative profile of this model, TS mice were crossed with Dyrk1A KO mice to obtain mice with a triplication of a segment of Mmu16 that includes this gene, mice that are trisomic for the same genes but only carry two copies of Dyrk1A, euploid mice with a normal Dyrk1A dosage, and CO animals with a single copy of Dyrk1A. Normalizing the gene dosage of Dyrk1A in the TS mouse rescued the density of senescent cells in the cingulate cortex, hippocampus and septum, prevented cholinergic neuron degeneration, and reduced App expression in the hippocampus, Aβ load in the cortex and hippocampus, the expression of phosphorylated tau at the Ser202 residue in the hippocampus and cerebellum and the levels of total tau in the cortex, hippocampus and cerebellum. Thus, the present study provides further support for the role of the Dyrk1A gene in several AD-like phenotypes found in TS mice and indicates that this gene could be a therapeutic target to treat AD in DS.

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“…In 2013, after increasing referrals from our clinic to audiology, 24.9% of 308 children with DS were identified with permanent hearing loss at the average age of 6 years [30]. ethnic proportion of the DS population and emphasizes the need for providing education and outreach to families and to practitioners serving these families [31]. The SCDS's targeted outreach and collaboration with the Hispanic and Latino community DS group has increased awareness of clinical screening and needs.…”

Section: Comorbiditiesmentioning

confidence: 99%

“…One might also speculate that children receiving services from a single pediatric hospital can potentially create a population bias. Our sample includes a disproportionately lower percent of Black/African American and higher percent of Hispanic/Latino children and young adults as compared to other previous studies, which may not appropriately address the specific needs of these demographics [31]. This study was designed to reduce limitations in the existing literature through one of the largest investigations of 1,108 unique children with DS based at a single institution incorporating a multi-age and ethnic sample and current AAP Guidelines testing practices…”

Section: Comorbiditiesmentioning

confidence: 99%

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

Hickey¹,

Wolter‐Warmerdam²,

Hickey³

et al. 2017

J Down Syndr Chr Abnorm

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Objective: Children with Down syndrome (DS) have an increased risk of neonatal complications and comorbidities compared to the general population; however, the incidence, optimal screening intervals and outcomes in this population are uncertain. The purpose of this study is to phenotypically define this population of children with DS using a large multi-age and ethnic sample and current American Academy of Pediatrics (AAP) Guidelines testing practices.Method: This is a retrospective review of a large cohort of 1,108 children with DS (male=602; mean age at initial contact: 5.72 years, SD ± 5.51) who received care at the Sie Center for Down Syndrome (SCDS) at The Children's Hospital Colorado from 2011 and 2016. Clinical data were collected from a prospective patient clinic database. Clinical details were collected, which included demographics, prenatal and birth history and complications, comorbidities, procedures, treatment plans and outcomes.Results: Medical complications requiring admission to the neonatal intensive care unit were identified in 70.6% of children with DS. Frequent causes for these neonatal admissions included: Required oxygen (60.7%), feeding problem (48.2%), Respiratory Distress Syndrome (21.4%) and pulmonary hypertension (14.7%). Incidence of medical comorbidities in our population with DS included cardiac defects (64.3%), abnormal sleep study (71.1%), abnormal thyroid study (29.1%), pulmonary aspiration (12.2%), celiac disease (5.0%) and pulmonary arterial hypertension (28.3%). Conclusion:Clinical data provides results from one of the largest investigations at a single pediatric hospital for children and young adults with DS in the US. This study describes the comorbidities affecting individuals with DS more accurately by applying AAP guidelines in studying a larger population than previously defined. This result improves our understanding of the incidence and identification of medical conditions in children with DS and reinforces recommendations on medical care screening for individuals with DS.

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Prevalence of Down Syndrome Among Children and Adolescents in 10 Regions of the United States

Abstract: This study provides prevalence estimates of DS among children and adolescents from 10 US regions. These estimates varied according to region, race/ethnicity, and gender, suggesting possible variation in prevalence at birth or in survival rates on the basis of these characteristics.

Cited by 228 publications

References 24 publications

Obstructive sleep apnea syndrome and cognition in Down syndrome

Obstructive sleep apnea syndrome and cognition in Down syndrome

Normalizing the gene dosage of Dyrk1A in a mouse model of Down syndrome rescues several Alzheimer's disease phenotypes

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

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