National Profile of Children with Down Syndrome: Disease Burden, Access to Care, and Family Impact

McGrath, Robert J.; Stransky, Michelle L.; Cooley, W. Carl; Moeschler, John B.

doi:10.1016/j.jpeds.2011.04.019

Cited by 63 publications

(66 citation statements)

References 27 publications

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“…However, in neurotypical children, the mean delay for a diagnosis of juvenile rheumatoid arthritis/other arthritic conditions was only 0.7 years [23]. The significant health impact of DS is well described throughout the literature and the development of a secondary condition could risk further impairment, not only of physical health and well-being but also of cognitive and/or functional outcome for individuals with DS [24][25][26]. It is the responsibility of the primary care provider caring for the patients with DS to monitor for commonly associated conditions and to provide early diagnosis, intervention and initiation of treatment [27].…”

Section: Discussionmentioning

confidence: 99%

Pediatrician Use of Down Syndrome Health Supervision Guidelines

Herzig

Walker²,

TeKolste³

et al. 2017

Clin Pediatr

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Objective: The primary care of children with Down syndrome (DS) requires close attention to specific medical vulnerabilities to maximize quality of life and prevent secondary disability. To help optimize adulthood outcomes for children with DS, the AAP Council on Genetics published health supervision guidelines to promote standardized care that adheres to the latest evidence based information. Our primary objective was to determine primary care pediatrician comfort, familiarity and frequency of referral to the 2011 AAP health supervision guidelines for children with DS. A secondary objective was to identify interventions that would improve compliance. Methods:A voluntary, self-administered e-mail survey was distributed to Washington State AAP members using Survey Monkey. The questionnaire targeted information regarding demographics, guideline knowledge, perceived barriers to guideline utilization and interventions to improve use. General pediatricians living in Washington State with self-reported past, current or expected future experience with the pediatric DS population were included.Results: Our response rate was 17% (N=161). Approximately 80% of pediatricians reported being comfortable using guidelines. About 20% of pediatricians were unfamiliar with the guidelines and do not refer to them. An additional 20% refer to the guidelines only sometimes. When asked a specific question regarding a guideline recommendation, 72% answered incorrectly. Over three-quarters of participants reported that electronic health record reminders would be the most beneficial. Conclusions:Opportunities to improve general pediatrician awareness and utilization of the DS guidelines exist. The most beneficial perceived intervention among pediatricians is guideline integration into the electronic health record. Studies measuring compliance and awareness of guidelines with a variety of interventions will be necessary in the future.

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Section: Discussionmentioning

confidence: 99%

Pediatrician Use of Down Syndrome Health Supervision Guidelines

Herzig

Walker²,

TeKolste³

et al. 2017

Clin Pediatr

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“…En cuanto a tipos de síndromes epilépticos, la literatura menciona una alta prevalencia (0,6-13%) de espasmos infantiles (EI) en niños con SD en relación al 0,04% de la población pediátrica general 15 . En nuestra serie, detectamos 12% de epilepsias, mayor al 6,7 y 8% descrito por Smigielska-Kuzia, McGrath y Cortez MA respectivamente 8,16,17 y el 63% de ellas correspondieron a EI. Van Trotserburg 18 en una serie de 176 niños con SD describe una frecuencia de EI de 3,4%, inferior al 7,5% (19/253) detectado en nuestra serie.…”

Section: Discussionunclassified

“…El aumento de esta incidencia podría estar dado por la postergación de la maternidad y la ausencia de práctica del aborto eugenésico 4 . Las complicaciones neurológicas de niños con SD, sin incluir el retraso cognitivo y la hipotonía, hallazgos transversales del síndrome 5,6 , son problemas frecuentes y no mencionados en la descripción original del SD 7 y su prevalencia puede llegar hasta 40% 8 . La diversidad en la expresión clínica de las manifestaciones neurológicas en SD, requiere un alto índice de sospecha y una búsque-da sistematizada por parte del clínico a cargo del cuidado de niños con SD.…”

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Trastornos neurológicos en niños con síndrome de Down

2012

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“…These investigations are significant in establishing a baseline to better understand this population. However, there are some limitations that include small participant numbers, data collection spanning many years, disparities in subject age range, lack of ethnic or race information and limited reliability of data systems for clinical information [7][8][9][10][11][12][13][14][15]. These challenges in the literature impact the reported frequency of comorbidities and limit our understanding of screening and identification of medical conditions for children with DS.…”

Section: Introductionmentioning

confidence: 99%

“…This is especially evident with autoimmune thyroid conditions (7-50%), seizures (1-10%), infantile spasms (3-15%), autism (1-7%) and obstructive sleep apnea (OSA) (30-60%), where reported frequencies vary widely [7][8][9][10]. An improved understanding of the complications Until recently, published articles have mostly relied on surveys and parental report with limited data collection from DS clinics [4,6,11]. Parental reports are limited by a reliance on the parent's ability to recall medical histories accurately.…”

Section: Introductionmentioning

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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National Profile of Children with Down Syndrome: Disease Burden, Access to Care, and Family Impact

Cited by 63 publications

References 27 publications

Pediatrician Use of Down Syndrome Health Supervision Guidelines

Pediatrician Use of Down Syndrome Health Supervision Guidelines

Trastornos neurológicos en niños con síndrome de Down

Pediatric Comorbidities and Medical Complications Identified in Children with Down Syndrome

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