Search results for "Retardation"

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…

2021

Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…

Customized and non-customized live-born birth-weight curves of single and uncomplicated pregnancies from the Burgundy perinatal network. Part I – met…

2017

International audience; Objectives: To establish non-customized and customized birth-weight curves of single and uncomplicated pregnancies according to gestational age.Materials and methods: We used data for 64,173 mother-infants pairs from the Burgundy perinatal network database (France) over the period 2005-2013. A validated procedure was used to link mothers with their newborns, and maternal and fetal pathologies likely to affect birth weight were excluded. Multiple regression analysis with covariate selection was used to build a customized growth curve with maternal and fetal parameters.Results: Using this methodology, three different curves were generated: an unadjusted curve for birth…

Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

2010

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study

2013

Background: Intrauterine growth restriction (IUGR) and small for gestational age (SGA) birth have been considered possible indicators of the presence of malformations. The aim of this study is to evaluate such relationships in a population of newborns, along with other epidemiological and auxological parameters, in particular the ponderal index (PI). Methods: We analyzed the birth data of 1093 infants, classified according to weight for gestational age as SGA, appropriate for gestational age (AGA) or large for gestational age (LGA). The prevalence of malformations was analyzed in relation to weight percentile at birth and SGA birth, maternal smoking, pregnancy diseases and PI. Results: Our …

Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study

2013

Background: Twins, compared to singletons, have an increased risk of perinatal mortality and morbidity, due mainly to a higher prevalence of preterm birth and low birthweight. Intrauterine growth restriction (IUGR) is also common and can affect one or both fetuses. In some cases, however, one twin is much smaller than the other (growth discordance). Usually, high birthweight discordance is associated with increased perinatal morbidity. The aim of this study is to describe the epidemiological features of a population of twins at birth, with particular reference to the interpretation and clinical effects of birthweight discordance. Methods: We evaluated retrospectively the clinical features o…

Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities

2019

Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children wit…

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

2012

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), al…

Are ratings of psychomotor retardation correlated with neuropsychological measurements?

1989

The present study investigated the correlation between retardation, assessed by the Bech-Rafaelsen Melancholia Scale (BRMS), and measurements of reaction time and motor performance in 26 elderly depressed patients. Significant correlations were only detected between motor retardation and the number and duration of faults in the line following part of the motor performance test. The total scores of the BRMS and the Hamilton Depression Scale did not correlate significantly with any of the performed measurements.

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystroph…

2003

OBJECTIVE: To identify the molecular defect by which psychomotor retardation is caused in two brothers with congenital hypothyroidism who received adequate treatment with l-thyroxine. CASE REPORT: A six-year-old boy presented with psychomotor retardation and congenital primary hypothyroidism (CH). The patient had a normal blood thyrotrophin (TSH) level on neonatal screening, but low total serum thyroxine and triiodothyronine concentrations prompting thyroid hormone substitution shortly after birth. Nevertheless, psychomotor development was retarded and the patient underwent further investigation. Typical features of Albright's hereditary osteodystrophy (AHO) such as round face, obesity, and…

Relationship between birth weight and awake blood pressure in children and adolescents in absence of intrauterine growth retardation.

1996

This study was designed to examine the relationship between birth weight (BW) and ambulatory blood pressure in children and adolescents, born at term in absence of intrauterine growth retardation. Twenty-four hour ambulatory blood pressure monitoring (ABPM) was performed on 332 children (150 boys), aged from 6 to 16 years. Subjects were stratified by BW tertiles and age. ABPM was performed using SpaceLabs 90207 monitor during a regular school day. Blood pressure (BP) was measured every 20 min from 06:00 to 24:00, and thereafter every 30 min. Means of systolic BP (SBP) and diastolic BP (DBP) during 24 h, daytime (08:00 to 22:00), and nighttime (24:00 to 06:00) were calculated. Systolic and d…