Background: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. The pathology of NDDs is complex. A recent study found that variants in the gene cause NDDs. However, genetic conditions play the most important role in the etiology of NDD. The genetic causes of NDD are extremely heterogeneous, leading to certain challenges in clinical diagnosis.
Methods: A pregnant woman with congenital intelligence disorder came to our hospital for genetic diagnosis to predict the status of her fetus. Her mother and a brother also suffer from congenital intelligence disorder. She has a daughter with speech delay. Whole exome sequencing was used to identify a mutation (c.1415C>G) in the of this family that resulted in a change in the 472nd amino acid residue of the SRRM2 protein from serine to terminated.
Conclusion: We report a family with an autosomal dominant genetic disorder caused by variants in the gene causing NDDs. Prenatal diagnosis can help patients with this genetic disorder to have healthy offspring.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445754 | PMC |
| http://dx.doi.org/10.3389/fendo.2023.1240168 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.
Ann Med
December 2025
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.
[Comprehensive rehabilitation of spinal trauma patients with extended involvement of nursing staff and neurometabolic therapy].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Russian University of Medicine, Moscow, Russia.
Objective: Analysis of the effectiveness of the use of the drug Cytoflavin and the organization of the activities of nursing staff, within the framework of nursing care, in the complex therapy of patients with spinal cord injury (PSMT).
Material And Methods: Material and methods. 40 patients with PSMT due to a gunshot wound were examined, who were divided into two equal groups depending on the type of therapy performed: group 1 patients received the full volume of stage I medical rehabilitation (with additional use of neurodevelopmental techniques under the supervision of a Bobata department nurse) and standard drug therapy, including a course of intravenous Cytoflavin infusions followed by tablet form; group 2 patients received the full volume of stage I medical rehabilitation and standard drug therapy, but did not receive Cytoflavin.
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Hybrid Service Delivery for voluntary, community and social enterprise organisations working with adults with learning disabilities and/or autism: a realist review protocol.
Syst Rev
December 2024
Centre for Health Promotion Research, School of Health, Leeds Beckett University, Leeds, UK.
Background: Delivery of health and care services using a combination of remote and/or in-person channels and digital and/or traditional tools (Hybrid Service Delivery, HSD) is increasingly seen as a way of improving quality and affordability, improving access, personalisation and sustainability, and reducing inequalities. Across the voluntary, community and social enterprise sector (VCSE), using a combination of remote and/or in-person channels and digital and/or traditional tools (HSD) has enabled the essential provision of services for people who have learning disabilities and/or autistic (LDA). However, it is unclear how different tools and channels have been used, what worked well or not well, for whom, and in what circumstances.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!