It is argued that a child with intellectual disability represents an ongoing source of loss and grief for parents. A developmental framework was employed to compare three age cohorts of parents. Grief was operationalized within the affective, behavioural and cognitive domains. Measures of intrusive thoughts, avoidance behaviours, current emotional distress over reminders of time of diagnosis of disability, and intensity of wishing for what might have been were used, collectively, to reflect the parents' grief reactions. As hypothesized, the results indicate no significant age-related differences in the responses of 58 parent dyads but significant gender-related differences. Mothers scored higher than fathers on all measures. However, on the Wishing Scale, there were no significant differences between fathers and mothers. It is concluded that grieving, as defined, is an ongoing feature of rearing a child with intellectual disability and is more intense for mothers than fathers. Results are discussed within the implications for research and practice, with particular reference to the merit of programmes and services which empower parents and strengthen bonds of partnership between parents and professionals.
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http://dx.doi.org/10.1111/j.2044-8341.1994.tb01769.x | DOI Listing |
MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions.
View Article and Find Full Text PDFIt is well known that activation of NMDA receptors can trigger long-term synaptic depression (LTD) and that a morphological correlate of this functional plasticity is spine retraction and elimination. Recent studies have led to the surprising conclusion that NMDA-induced spine shrinkage proceeds independently of ion flux and requires the initiation of protein synthesis, highlighting an unappreciated contribution of mRNA translation to non-ionotropic NMDAR signaling. Here we used NMDA-induced spine shrinkage in slices of mouse hippocampus as a readout to investigate this novel modality of synaptic transmission.
View Article and Find Full Text PDFSYNGAP1 is a major regulator of synaptic plasticity through its interaction with synaptic scaffold proteins and modulation of Ras and Rap GTPase signaling pathways. mutations in humans are often associated with intellectual disability, epilepsy, and autism spectrum disorder. heterozygous loss-of-function results in impaired LTP, premature maturation of dendritic spines, learning disabilities and seizures in mice.
View Article and Find Full Text PDFFront Psychiatry
December 2024
Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Background: Pathogenic variants in are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.
Case Presentation: Patient 1 (a 13-year-old girl) was born normally at term.
J Cent Nerv Syst Dis
January 2025
CRCSEP, Université Nice Cote d'Azur, Nice, France.
Multiple sclerosis (MS) falls within the spectrum of central nervous system (CNS) demyelinating diseases that may lead to permanent neurological disability. Fundamental to the diagnosis and clinical surveillance is magnetic resonance imaging (MRI) that allows for the identification of T2-hyperintensities associated with autoimmune injury that demonstrate distinct spatial distribution patterns. Here, we describe the clinical experience of a 31-year-old, right-handed, White man seen in consultation at The University of Texas Southwestern Medical Center in Dallas, Texas, following complaints of headaches that began after head trauma related to military service.
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