Search results for "Intellectual Disability"
showing 10 items of 303 documents
Use of the universal pain assessment tool for evaluating pain associated with TMD in youngsters with an intellectual disability
2016
Background The Universal Pain Assessment Tool (UPAT) was used to assess the level of pain in people with limited communication skills. The UPAT enables clinicians to consult a specialized pain management team more often and lead to earlier interventions. The purpose of this study was to determine, whether the UPAT could be used as an extra tool to collect data on functional TMJ pain and to assess orofacial pain levels related to temporomandibular disorder(s) (TMD) in people with intellectual disabilities (ID). Material and Methods Non-down syndrome ID Athletes were screened during the Special Olympics European games in 2014. The clinical scores of possible functional jaw pain were collected…
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
2009
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.
Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia
2015
Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies i…
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
L'approche basée sur le génotype déterminé par séquençage haut-débit en première intention et le partage international des données pour identifier de…
2019
Developmental disorders (DD) include malformative disorders and neurodevelopmental disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). These clinical features can be isolated or combined in a given patient, they affect around 3% of worldwide population. These disorders are responsible for major morbidity and mortality, for hospitalization especially in pediatric departments, for disabilities and, therefore, this represents a public health priority. Since 2004, in France, several national plans were conducted and extended, the last one being the 3rd National Plan for Rare Disorders (PNMR 2018-2022) which include 10 main goals, among others increasing diagnosis…
Parenting Stress in Mothers of Children With Autism Without Intellectual Disability. Mediation of Behavioral Problems and Coping Strategies
2019
The present study investigated the mediating role of behavioral difficulties, coping strategies, and social functional support in the relationship between symptoms severity and parenting stress in mothers of children with ASD (autism spectrum disorder). The parenting stress questionnaire, coping orientation to problems experienced scale, strengths and difficulties questionnaire, and Duke-UNC social support questionnaire were administered to 52 mothers, who also estimated the ASD severity symptoms of their children. Correlation analyses revealed that parenting stress was positively correlated with the children's ASD symptoms and behavioral problems. On the other hand, parenting stress was ne…
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by fish and array-CGH
2012
Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes with at least three breakpoints. CCRs can be divided into familial and de novo. Balanced CCR are extremely rare in humans and are at high risk of producing unbalanced gametes. Individuals with balanced CCR are usually phenotipically normal but report fertility problems, recurrent miscarriages or congenital anomalies in newborn offsprings as consequence of either meiotic failure or imbalanced chromosomes segregation.We describe the case of an unbalanced CCR involving chromosomes 1, 4 and 8 found in a girl with developmental delay, hexadactilia and microcephaly. The rearrangement, apparent…
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
2020
AbstractThis study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel MCPH1 variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring −2 or −3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: MCPH1; chr8.6357416; c.2180 C > T (rs 1…
Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment
2020
The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a de novo deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by arra…
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021
International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…