Dataset Information

School level of children carrying a HNF1B variant or a deletion.

ABSTRACT: The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied. Data from 180 children were available for analysis. Patients mean age was 9.6 years, with 39.9% of girls. Among these patients, 119 carried a HNF1B deletion and 61 a disease-associated variant. In the school-aged population, 12.7 and 3.6% of patients carrying a HNF1B deletion and a disease-associated variant had special educational needs, respectively. Therefore, the presence of a HNF1B deletion increases the risk to present with a neuropsychiatric involvement when compared with the general population. On the other hand, almost 90% of patients carrying a HNF1B disease-associated variant or deletion have a normal schooling in a general educational environment. Even if these findings do not predict the risk of neuropsychiatric disease at adulthood, most patients diagnosed secondary to kidney anomalies do not show a neurological outcome severe enough to impede standard schooling at elementary school. These results should be taken into account in prenatal counseling.

SUBMITTER: Lalieve F

PROVIDER: S-EPMC6906503 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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School level of children carrying a HNF1B variant or a deletion.

Laliève Fanny F Decramer Stéphane S Heidet Laurence L Baudouin Véronique V Lahoche Annie A Llanas Brigitte B Cochat Pierre P Tenenbaum Julie J Lavocat Marie-Pierre MP Eckart Philippe P Broux Françoise F Roussey Gwenaelle G Cloarec Sylvie S Vrillon Isabelle I Dunand Olivier O Bessenay Lucie L Tsimaratos Michel M Nobili François F Pietrement Christine C De Parscau Loïc L Bonneville Valérie V Rodier Nicolas N Saint-Martin Cécile C Chassaing Nicolas N Michel-Calemard Laurence L Moriniere Vincent V Bellanné-Chantelot Christine C Bahans Claire C Guigonis Vincent V

European journal of human genetics : EJHG 20190903 1

The prevalence of neurological involvement in patients with a deletion of or a variant in the HNF1B gene remains discussed. The aim of this study was to investigate the neuropsychological outcomes in a large cohort of children carrying either a HNF1B whole-gene deletion or a disease-associated variant, revealed by the presence of kidney anomalies. The neuropsychological development-based on school level-of 223 children included in this prospective cohort was studied. Data from 180 children were ...[more]

PMID: 31481685

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Project description:BackgroundSensory processing atypicalities are frequent in Autism Spectrum Disorder (ASD) and neurodevelopmental disorders (NDD). Different domains of sensory processing appear to be differentially altered in these disorders. In this study, we explored the sensory profile of two clinical cohorts, in comparison with a sample of typically developing children.MethodsBehavioral responses to sensory stimuli were assessed using the Sensory Processing Measure (parent-report questionnaire). We included 121 ASD children, 17 carriers of the 16p11.2 deletion (Del 16p11.2) and 45 typically developing (TD) children. All participants were aged between 2 and 12 years. Additional measures included the Tactile Defensiveness and Discrimination Test-Revised, Wechsler Intelligence Scales and Autism Diagnostic Observation Schedule (ADOS-2). Statistical analyses included MANCOVA and regression analyses.ResultsASD children score significantly higher on all SPM subscales compared to TD. Del16p11.2 also scored higher than TD on all subscales except for tactile and olfactory/taste processing, in which they score similarly to TD. When assessing sensory modulation patterns (hyper-, hypo-responsiveness and seeking), ASD did not significantly differ from del16p11.2. Both groups had significantly higher scores across all patterns than the TD group. There was no significant association between the SPM Touch subscale and the TDDT-R.LimitationsSensory processing was assessed using a parent-report questionnaire. Even though it captures observable behavior, a questionnaire does not assess sensory processing in all its complexity. The sample size of the genetic cohort and the small subset of ASD children with TDDT-R data render some of our results exploratory. Divergence between SPM Touch and TDDT-R raises important questions about the nature of the process that is assessed.ConclusionsTouch and olfaction/taste seem to be particularly affected in ASD children compared to del16p11.2. These results indicate that parent report measures can provide a useful perspective on behavioral expression. Sensory phenotyping, when combined with neurobiological and psychophysical methods, might have the potential to provide a better understanding of the sensory processing in ASD and in other NDD.

Project description:ObjectiveWe aimed to investigate the associations between school-level characteristics and obesity among Chinese primary school children with consideration of individual-level characteristics.DesignThis cross-sectional study was conducted in 2015/2016. School-level characteristics were assessed using an interviewer-administered school questionnaire, and a 'school-based obesity prevention index' was further developed. Individual-level characteristics were collected by self-administered questionnaires. Objectively measured height and weight of students were collected, and obesity status was classified according to the International Obesity Task Force criteria for Asian children. Generalised linear mixed models were used to estimate the associations among the school- and individual-level characteristics and obesity of students.SettingThirty-seven primary schools from an urban and a rural district of Beijing, China.ParticipantsSchool staffs, 2201 students and their parents.ResultsThe school-based obesity prevention index involved the number of health professionals, availability of students' health records, monitoring students' nutrition status, frequency of health education activities, reporting achievements of obesity prevention activities to parents, duration of physical activity during school time and availability of playground equipment. The prevalence of obesity was lower in schools with the higher index value compared with that in schools with the lower index value (OR 0·56; 95 % CI 0·40, 0·79). Some individual-level characteristics were negatively associated with childhood obesity: liking sports, duration of screen time ≤2 h/d, perceived lower eating speed, parental non-overweight/obesity.ConclusionsIrrespective of individual-level characteristics, the specific school-level characteristics had a cumulative effect on obesity among Chinese primary school children. Further school-based obesity intervention should consider these characteristics simultaneously.

Dataset Information

School level of children carrying a HNF1B variant or a deletion.

Publications

School level of children carrying a HNF1B variant or a deletion.

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