Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.
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http://dx.doi.org/10.1080/17518423.2016.1259274 | DOI Listing |
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFTher Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFFront Neurol
December 2024
Brain and Development Research Axis, Azrieli CHU Ste-Justine Research Center, Montreal, QC, Canada.
Epileptic spasms (ES) are a unique seizure type typically presenting in the form of infantile epileptic spasms syndrome (IESS) with characteristic hypsarrhythmia on scalp EEG and a preponderance with developmental delay or regression. While pharmacotherapy is the mainstay of treatment, surgical options, including disconnective or resective procedures, are increasingly recognized as viable therapeutic options for recurrent or persistent ES. However, limited data on safety, effectiveness, and prognostic factors hinder informed decision-making regarding surgery indications, timing, and intervention type.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Pediatric Radiology Department, Children's Hospital, University Mohammed V of Rabat, Rabat, Morocco.
Pituitary stalk interruption syndrome (PSIS) is a congenital anatomical defect that leads to pituitary insufficiency, The symptoms are diverse, often leading to diagnostic delays or even misdiagnosis. MRI plays a crucial role in establishing an accurate diagnosis by revealing a characteristic radiological triad: a thin or absent pituitary stalk, an ectopic or missing posterior pituitary gland, and anterior pituitary hypoplasia. We herein describe 2 cases: 1 involving a 9-year-old boy and the other an 11-year-old girl, both diagnosed with PSIS.
View Article and Find Full Text PDFComb Chem High Throughput Screen
January 2025
Department of Obstetrics and Gynecology, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.
Background: Observational studies have reported that arm fat, left leg fat, and trunk fat masses have different effects on polycystic ovarian syndrome (PCOS). However, the causal relationship between them remains unknown.
Materials And Methods: A two-sample Mendelian randomization (MR) study was conducted by utilizing pooled data from the largest Genome-Wide Association Study (GWAS).
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