Search results for "development disorders"
showing 10 items of 54 documents
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
2012
Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of <5 Mb involving the 12p13.33 locus is one of the least commonly deleted subtelomeric regions. Only four patients have been reported with such a deletion diagnosed with fluorescence in situ hybridisation telomere analysis or array CGH. To further delineate this rare microdeletional syndrome, a French collaboration together with a search in the Decipher database allowed us to gather nine new patients with a 12p13.33 subtelomeric or …
Reading outcomes of children with delayed early vocabulary: A follow-up from age 2-16.
2018
Abstract Background Delays in expressive vocabulary have been associated with lower outcomes in reading. Aim The aim is to conduct a long-term follow-up study to investigate if early expressive vocabulary delay (late talking) predicts reading development in participants age 16 and under. We examine further if the prediction is different in the presence of family risk for dyslexia (FR) and early receptive vocabulary delay. Methods Expressive and receptive vocabulary skills were assessed at the age of 2–2.5 years, and reading skills in Grades 2, 3, 8 and 9 (age 8–16). The longitudinal sample consisted of 200 Finnish-speaking children, of which 108 had FR for dyslexia and 92 came from families…
School-entry language outcomes in late talkers with and without a family risk of dyslexia.
2020
Children with familial risk (FR) of dyslexia and children with early language delay are known to be at risk for later language and literacy difficulties. However, research addressing long‐term outcomes in children with both risk factors is scarce. This study tracked FR and No‐FR children identified as late talkers at 2 years of age and reports development from 4;6 through 6 years. We examined the possible effects of FR‐status and late talking (LT) status, respectively, on language skills at school entry, and whether FR‐status moderated the associations between 4;6‐year and 6‐year language scores. Results indicated an effect of LT status on language at both ages, while FR status affected lan…
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…
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
2013
AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …
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…
Developmental pathways of children with and without familial risk for dyslexia during the first years of life.
2002
Comparisons of the developmental pathways of the first 5 years of life for children with (N = 107) and without (N = 93) familial risk for dyslexia observed in the Jyvaskyla Longitudinal study of Dyslexia are reviewed. The earliest differences between groups were found at the ages of a few days and at 6 months in brain event-related potential responses to speech sounds and in head-turn responses (at 6 months), conditioned to reflect categorical perception of speech stimuli. The development of vocalization and motor behavior, based on parental report of the time of reaching significant milestones, or the growth of vocabulary (using the MacArthur Communicative Development Inventories) failed t…
Early development of children at familial risk for Dyslexia—follow-up from birth to school age
2004
We review the main findings of the Jyväskylä Longitudinal study of Dyslexia (JLD) which follows the development of children at familial risk for dyslexia (N = 107) and their controls (N = 93). We will illustrate the development of these two groups of children at ages from birth to school entry in the skill domains that have been connected to reading and reading disability in the prior literature. At school entry, the highest score on the decoding task among the poorer half (median) of the at risk children--i.e. of those presumably being most likely genetically affected--is 1 SD below the mean of the control group. Thus, the familial risk for dyslexia shows expected consequences. Among the e…
Food selectivity in autism spectrum disorders: a systematic review.
2013
Autism spectrum disorders are characterized by difficulties with reciprocal social interactions and restricted patterns of behavior and interest; one of these characteristic behaviors is food selectivity. The objective of this study was to perform a systematic review of the literature published between 1970 and 2013 concerning this eating behavior. The articles identified were analyzed in terms of sample size, study design, and criteria for assessment and intervention, as well as the results, level of evidence and grade of recommendation. The main search was conducted in Medline, Cochrane Library, Scielo, ScienceDirect, and Embase). There is empirical evidence and an overall scientific con…
Kompetenču pieejas īstenošanas iespējas apvienotajās klasēs darbā ar bērniem ar garīgās attīstības traucējumiem
2022
Skolotāja maģistra pieredzes darba “Kompetenču pieejas īstenošanas iespējas apvienotajās klasēs darbā ar bērniem ar garīgās attīstības traucējumiem” aktualitāte izriet no Valsts izglītības satura centra īstenotā projekta “Kompetenču pieeja mācību saturā” (Skola2030) izglītības politikas plānošanas dokumentiem un izvirzītajām prioritātēm, ar mērķi – izstrādāt, aprobēt, pēctecīgi ieviest Latvijā tādu vispārējās izglītības saturu un pieeju mācīšanai, kā rezultātā skolēni gūtu dzīvei mūsdienās nepieciešamās zināšanas, prasmes un attieksmes, kā arī, lai apkopotu speciālo skolotāju pieredzi satura ieviešanai apvienotajās klasēs bērniem ar garīgās attīstības traucējumiem. Maģistra darba mērķis ir …