Cargando…

A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex

BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may...

Descripción completa

Detalles Bibliográficos
Autores principales:	Trickett, J., Heald, M., Oliver, C., Richards, C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831859/ https://www.ncbi.nlm.nih.gov/pubmed/29490614 http://dx.doi.org/10.1186/s11689-018-9226-0

Ejemplares similares

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
por: Poisson, Alice, et al.
Publicado: (2015)

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
por: Nag, Heidi Elisabeth, et al.
Publicado: (2018)

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
por: Agar, Georgie, et al.
Publicado: (2022)

Multi-Method Assessment of Sleep in Children With Angelman Syndrome: A Case–Controlled Study
por: Trickett, Jayne, et al.
Publicado: (2019)

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith–Magenis Syndrome: A Case Report
por: Momosaki, Ken, et al.
Publicado: (2020)

Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome
por: Hidalgo-De la Guía, Irene, et al.
Publicado: (2021)

Smith-magenis syndrome: A rare case report
por: Sinha, Rupam, et al.
Publicado: (2022)

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
por: Falco, Mariateresa, et al.
Publicado: (2017)

Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome
por: Zahoor, Hovra, et al.
Publicado: (2023)

Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report
por: Tsirikos, Athanasios I, et al.
Publicado: (2010)

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
por: Rinaldi, Berardo, et al.
Publicado: (2022)

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence
por: Nag, Heidi Elisabeth, et al.
Publicado: (2019)

The developmental trajectory of sleep in children with Smith-Magenis syndrome compared to typically developing peers: a 3-year follow-up study
por: Agar, Georgie, et al.
Publicado: (2023)

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
por: Boot, Erik, et al.
Publicado: (2021)

Congenital Scoliosis in Smith–Magenis Syndrome: A Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2015)

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report
por: McKenzie, Shanice A, et al.
Publicado: (2019)

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
por: Cipolla, Clelia, et al.
Publicado: (2023)

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2012)

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
por: Truong, Hoa T, et al.
Publicado: (2010)

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison
por: Lubbers, Kyra, et al.
Publicado: (2022)

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes
por: Carmona-Mora, P, et al.
Publicado: (2009)

Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
por: Chang, Ya-Ting, et al.
Publicado: (2022)

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder
por: Poisson, Alice, et al.
Publicado: (2019)

SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
por: Mulvaney, Kylie Tamm, et al.
Publicado: (2020)

Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome
por: Narlesky, Matthew R, et al.
Publicado: (2022)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview
por: Nijim, Yousif, et al.
Publicado: (2016)

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist
por: Nag, Heidi Elisabeth, et al.
Publicado: (2020)

Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension
por: Polymeropoulos, Christos M., et al.
Publicado: (2021)

Effect of epilepsy on autism symptoms in Angelman syndrome
por: Bakke, Kristin A., et al.
Publicado: (2018)

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
por: Müller, A. R., et al.
Publicado: (2021)

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
por: Ricard, Guénola, et al.
Publicado: (2010)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview: Erratum
Publicado: (2017)

Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome
por: Lee, Cha Gon, et al.
Publicado: (2012)

Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
por: Huang, Wei-Hsiang, et al.
Publicado: (2018)

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2010)

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
por: Turco, Elisa Maria, et al.
Publicado: (2022)

A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
por: Wu, Xiaobin, et al.
Publicado: (2023)

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
por: Chang, Hao-Cheng, et al.
Publicado: (2022)

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
por: Abad, Clemer, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_1um12lvk4afq615c7k9kcgjikc