Updated consensus guidelines on the management of Phelan–McDermid syndrome

S Srivastava, M Sahin, JD Buxbaum… - American Journal of …, 2023 - Wiley Online Library
Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3
haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic …

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

L Harper, S McAnelly, I Walshe, A Ooms… - Journal of Applied …, 2023 - Wiley Online Library
Background People with intellectual disabilities are more likely to experience sleep
problems, which can affect quality of life, physical health, mental health and well‐being …

Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability

TA Fenton, OY Haouchine, EB Hallam… - Translational …, 2024 - nature.com
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental
disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional …

Mouse models of SYNGAP1-related intellectual disability

Y Araki, EE Gerber, KE Rajkovich… - Proceedings of the …, 2023 - National Acad Sciences
SYNGAP1 is a Ras-GTPase-activating protein highly enriched at excitatory synapses in the
brain. De novo loss-of-function mutations in SYNGAP1 are a major cause of genetically …

Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice

JS Lord, SM Gay, KM Harper, VD Nikolova, KM Smith… - Molecular autism, 2022 - Springer
Background Patients with autism spectrum disorder (ASD) experience high rates of sleep
disruption beginning early in life; however, the developmental consequences of this …

Sleep in people with and without intellectual disabilities: a systematic review and meta‐analysis

EG Browne, JR King… - Journal of Intellectual …, 2024 - Wiley Online Library
Background Sleep problems are regularly reported in people with intellectual disabilities.
Recent years have seen a substantial increase in studies comparing sleep in people with …

Bridging the translational gap: what can synaptopathies tell us about autism?

CJ Molloy, J Cooke, NJF Gatford… - Frontiers in Molecular …, 2023 - frontiersin.org
Multiple molecular pathways and cellular processes have been implicated in the
neurobiology of autism and other neurodevelopmental conditions. There is a current focus …

Context-dependent hyperactivity in syngap1a and syngap1b zebrafish models of SYNGAP1-related disorder

SH Sumathipala, S Khan, RA Kozol, Y Araki… - Frontiers in molecular …, 2024 - frontiersin.org
Background and aims SYNGAP1-related disorder (SYNGAP1-RD) is a prevalent genetic
form of Autism Spectrum Disorder and Intellectual Disability (ASD/ID) and is caused by de …

[HTML][HTML] Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics

JJ Maurer, A Choi, I An, N Sathi, S Chung - Neurobiology of Sleep and …, 2023 - Elsevier
Sleep is crucial for brain development. Sleep disturbances are prevalent in children with
autism spectrum disorder (ASD). Strikingly, these sleep problems are positively correlated …

Subjective sleep assessment in individuals with SYNGAP1-associated syndrome

A Mosini, M Moysés-Oliveira, L Adami… - Journal of Clinical …, 2024 - jcsm.aasm.org
Study Objectives: Sleep disturbances are common in neurodevelopmental disorders,
affecting patients and caregivers' quality of life. SYNGAP1-associated syndrome, a rare …