Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

AD Kline, JF Moss, A Selicorni, AM Bisgaard… - Nature Reviews …, 2018 - nature.com
Abstract Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is
characterized by intellectual disability, well-defined facial features, upper limb anomalies …

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

M Zollino, C Zweier, ID Van Balkom… - Clinical …, 2019 - Wiley Online Library
Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by
intellectual disability, specific facial features, and marked autonomic nervous system …

A systematic review of interventions to improve healthcare experiences and access in autism

C Walsh, P O'Connor, E Walsh, S Lydon - Review Journal of Autism and …, 2023 - Springer
Autistic individuals report barriers to accessing and receiving healthcare, and experience
increased morbidity and mortality. This systematic review synthesizes 31 research studies …

Severity of coronavirus disease 2019 hospitalization outcomes and patient disposition differ by disability status and disability type

KEN Clarke, K Hong, M Schoonveld… - Clinical Infectious …, 2023 - academic.oup.com
Background Systemic inequities may place people with disabilities at higher risk of severe
coronavirus disease 2019 (COVID-19) illness or lower likelihood to be discharged home …

Vision impairments in young adults with Down syndrome

Y Martin-Perez, G Gonzalez-Montero… - Vision, 2023 - mdpi.com
People with Down syndrome have more visual problems than the general population. They
experience premature ageing, and they are expected to also have an acceleration in …

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

C Liu, X Li, J Cui, R Dong, Y Lv, D Wang… - … Genetics & Genomic …, 2020 - Wiley Online Library
Abstract Background Cornelia de Lange syndrome (CdLS) is a rare congenital
developmental disorder with variable multisystem involvement and genetic heterogeneity …

Assessing pain in children with autism spectrum disorders: findings from a preliminary validation study

A Palese, L Conforto, F Meloni, V Bordei… - … journal of caring …, 2021 - Wiley Online Library
Aims Assessing pain in children with autism spectrum disorders (ASDs) can be extremely
challenging, since many cannot self‐report pain. This study aims to test the validity of the …

Evaluation of factors related to prolonged lengths of stay for patients with autism with or without intellectual disability

SH Ailey, TJ Johnson, A Cabrera - Journal of Psychosocial …, 2019 - journals.healio.com
Patients with autism spectrum disorder and/or intellectual disability (ASD/ID) face unique
health care challenges. In addition to hospital experiences characterized by fear and …

Faculty Scholarship Addressing Health Disparities with Persons with Intellectual and Developmental Disabilities: A Case Study Based on Boyer's Model of …

SH Ailey, TR Friese - Online Journal of Issues in Nursing, 2022 - search.ebscohost.com
Approximately seven million Americans with intellectual and developmental disabilities
(IDD) face disparities and inequities in health, access to healthcare, and health outcomes …

Fourth year intellectual disability student nurses' journey and future work intention: a qualitative study

O Doody, P Meskell, S Murphy-Tighe, M Noonan… - BMC nursing, 2022 - Springer
Background The aim of this qualitative study is to explore the views and experiences of final
year BSc intellectual disability nursing students' journey, future work plans and examine …