Search results for "Language delay"

Early markers of language delay in children with and without family risk for dyslexia

2015

Accepted manuscript version. Published version at http://doi.org/10.1177/0142723715596122. This study examined the extent to which receptive and productive vocabulary between ages 12 and 18 months predicted language skills at age 24 months in children born with family risk for dyslexia (FR) and a control group born without that risk. The aim was to identify possible markers of early language delay. The authors monitored vocabulary growth in 32 FR children and 21 control children longitudinally by using the Norwegian adaption of the MacArthur–Bates Communicative Development Inventories. The results show different patterns in the two groups: the study found a stronger interdependence of early…

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

2021

International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…

Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication

2019

The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and languag…

7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…

2019

Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …

Parent-Implemented Hanen Program It Takes Two to Talk®: An Exploratory Study in Spain

2021

Parent-implemented interventions are a highly common approach for enhancing communication and linguistic abilities of late talkers, involving a population that shows a small expressive vocabulary in the absence of other deficits that could explain it. This study aimed to compare the outcomes of a parent-implemented language intervention, It Takes Two to Talk®—The Hanen Program® for Parents (ITTT), to a clinician-directed therapy. Participants were 17 families and their late-talking children: 10 families took part in ITTT and 7 in the clinician-directed modality. The outcomes in the social communication domain were more favorable for the ITTT group, but there were no significant differences …

16P11.2 microdeletion/microduplication syndrome: Further characterization of a critical region for neuropsychiatric development

2013

The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

2021

PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. METHODS: Most cases were identified through routine clinical diagnostics. Variants were biochemically characterized for phosphatase activity and interaction with other PP2A subunits. RESULTS: We describe 30 individuals with 16 different variants in PPP2R1A, 21 of whom had variants not previously reported. The severity of developmental delay …

Language Development and Symbolic Play in Children With and Without Familial Risk for Dyslexia

2001

The purposes of this study were to investigate (a) whether children in families with a positive history of dyslexia were more likely to show delays in language development than children without family risk and (b) whether a delayed onset of expressive language (late talking) predicted later language development. We analyzed the language development of 200 children longitudinally at 14, 24, 30, and 42 months and assessed their symbolic play at 14 months. Half of the children ( N =106) were from families with a history of dyslexia (the Dyslexia Risk [DR] group), and other children served as age-matched controls. Parental reports and structured tests were used to assess children’s receptive a…