{"title":"Expanding the natural history of CASK-related disorders to the prenatal period","authors":"","doi":"10.1111/dmcn.16012","DOIUrl":null,"url":null,"abstract":"<p>This study investigated how specific genetic mutations in the <i>CASK</i> gene are associated with a condition known as microcephaly with pontine and cerebellar hypoplasia (MICPCH), which affects the size of the head and certain parts of the brain. The researchers aimed to determine if signs of this condition could be identified before birth.</p><p>The researchers collected data from 49 patients, primarily sourcing information from a CASK parents' social media group and colleagues specializing in cerebellar malformations. They discovered that 59% of the fetuses exhibited smaller-than-average head circumferences before birth, with 76% displaying a decrease in head circumference growth rate during pregnancy. At birth, nearly half of the babies had head circumferences below the 2nd percentile.</p><p>Furthermore, 41% of the fetuses had below-average measurements for the cerebellum, indicating that signs of this condition can indeed manifest before birth.</p><p>The study suggests that current methods for routine fetal brain assessments may not effectively detect most cases of this condition. Therefore, the researchers recommend regular monitoring of head circumference growth and genetic testing if there are indications of growth deceleration or abnormalities in cerebellar measurements.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":null,"pages":null},"PeriodicalIF":3.8000,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16012","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Developmental Medicine and Child Neurology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16012","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
This study investigated how specific genetic mutations in the CASK gene are associated with a condition known as microcephaly with pontine and cerebellar hypoplasia (MICPCH), which affects the size of the head and certain parts of the brain. The researchers aimed to determine if signs of this condition could be identified before birth.
The researchers collected data from 49 patients, primarily sourcing information from a CASK parents' social media group and colleagues specializing in cerebellar malformations. They discovered that 59% of the fetuses exhibited smaller-than-average head circumferences before birth, with 76% displaying a decrease in head circumference growth rate during pregnancy. At birth, nearly half of the babies had head circumferences below the 2nd percentile.
Furthermore, 41% of the fetuses had below-average measurements for the cerebellum, indicating that signs of this condition can indeed manifest before birth.
The study suggests that current methods for routine fetal brain assessments may not effectively detect most cases of this condition. Therefore, the researchers recommend regular monitoring of head circumference growth and genetic testing if there are indications of growth deceleration or abnormalities in cerebellar measurements.
期刊介绍:
Wiley-Blackwell is pleased to publish Developmental Medicine & Child Neurology (DMCN), a Mac Keith Press publication and official journal of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) and the British Paediatric Neurology Association (BPNA).
For over 50 years, DMCN has defined the field of paediatric neurology and neurodisability and is one of the world’s leading journals in the whole field of paediatrics. DMCN disseminates a range of information worldwide to improve the lives of disabled children and their families. The high quality of published articles is maintained by expert review, including independent statistical assessment, before acceptance.