Search results for "Developmental Disorder"
showing 10 items of 147 documents
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…
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
2015
G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…
A minireview about preterm birth and main specific neurodevelopmental disorders
2018
The preterm birth interrupts the physiological processes that allow the development of the Nervous System and of the body apparatus. Preterm children present a multi-organ dysfunction inversely proportional to the gestational age, leading to respiratory, cardiovascular, haematological, metabolic, infectious, and neurological problems.
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
2022
Published August 23, 2022 The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 part…
Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?
2002
A girl with oral, facial, and digital anomalies presented at birth with a large cleft palate filled by a nasopharyngeal mass and was found later to have several vertebral anomalies and mental retardation. A similar phenotype has been previously reported in a sporadic male patient [Gabrielli et al., 1994: Am J Med Genet 53:290-293], suggesting a new variant form of oral-facial-digital syndrome.
Benign nocturnal alternating hemiplegia of childhood: a new case with unusual findings
2014
Abstract It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine…
Efficiency of Multisensoric Therapy in Autism Spectrum Disorder Patients
2018
Abstract The aim of this study was to investigate the role of various treatment methods for children with autistic spectrum disorders (ASD). The prospective study was conducted in 2013–2015 at the Children’s University Hospital and Social Pediatric Centre of the University of Latvia. The data analysis included 72 children (2 to 5 year old) with ASD, of whom 38 had infantile autism, 16 had atypical autism, and 18 had other diffuse developmental disorder). 86.1% patients received therapy. The most common treatment was by Montessori method and special pedagogue. Other treatments were dance-movement therapy, animal, sand and one patient received spa treatments. Univariate OR analysis showed tha…
Early patterns of electrical activity in the developing cerebral cortex of humans and rodents.
2006
International audience; During prenatal and early postnatal development, the cerebral cortex exhibits synchronized oscillatory network activity that is believed to be essential for the generation of neuronal cortical circuits. The nature and functional role of these early activity patterns are of central interest in neuroscience. Much of the research is performed in rodents and in vitro, but how closely do these model systems relate to the human fetal brain? In this review, we compare observations in humans with in vivo and in vitro rodent data, focusing on particular oscillatory activity patterns that share many common features: delta brushes, spindle bursts and spindle-like oscillations. …
The quality of life of children with pervasive developmental disorders
2009
AIM: Quality of life is increasingly the focus of attention by health, psychological and social services. Pervasive developmental disorders (PDD) are a group of psychiatric conditions in which the patient's clinical case history is characterized by disturbances in social interaction, deterioration of verbal and non-verbal communication, and presence of bizarre, limited and stereotyped activity. These disturbances affect multiple developmental areas and show up in very early stages of development, resulting in a permanent disorder. Many studies have sought to recognize causes and interventions for persons with PDD, however, they often take insufficient account of the effects these disorder c…
Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study
2014
The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…