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Psychological impact of motor impairment in tow forms of congenital muscular dystrophy
- I. Boujelbene, M. Chaabane, M. Guirat, D. Ben Touhemi, N. Gharbi, M. Yousr, H. Kamoun, I. Ben Ayed
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S733
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Introduction
Congenital muscular dystrophies (CMDs) represent a heterogeneous group of early-onset muscle disorders presenting primarily with hypotonia and delayed motor development. Several genes are known to be responsible for CMDs, including the LAMA2 gene, involved in merosin-deficient type 1A (MDC1A), and the FKRP gene involved in muscular dystrophy-dystroglycanopathy type B5 (MDDGB5). These two forms of CMD are autosomal recessive and are each characterized by the presence of a mutation with a founder effect in South Tunisia. Cognitive development associated with the founder mutation in the LAMA2 gene (c.8007delT) is often conserved, whereas in the founder mutation of the FKRP gene (c.1364 C>A), motor impairment is associated with intellectual disability (ID).
ObjectivesTo compare the psychological impact of motor impairment in children presenting these two forms of CMD and their families.
MethodsThe study consisted of a survey of parents of children with a confirmed diagnosis of MDC1A (5 from 3 unrelated families) or MDDGB5 (3 from 3 unrelated families). The correspondent founder mutation was already identified in the homozygous state by targeted sequencing. Participants’ parents completed the Parent Strengths and Difficulties Questionnaire (SDQ), a behavioral screening tool designed for children aged from 2 to 17 years. The SDQ assesses emotional symptoms, behavior problems, hyperactivity, and peer relationships; The SDQ Impact Supplement assesses the impact of all these children’s difficulties on their families.
ResultsThe average age of the children was 4.95±3.92 with two children who were not assessable by the SDQ (age< 2 years). Unlike children with MDC1A, ID has been reported in all children with MDDGB5. The mean SDQ total score for children with MDC1A was 11, whereas the mean score for children with MDDGB5 was 14.875, reflecting greater difficulty for children with MDDGB5. The family impact score was higher in families with children with MDDGB5 than in children with MDC1A (10,5 vs 7), which may be due to the burden of management of the ID associated with the motor impairment. The more pronounced difficulties associated with MDDGB5 are likely to be related to the associated ID. Whereas in MDC1A, the difficulties observed are related to the direct impact of the motor impairment. The presence of cognitive disorders associated with a motor deficit aggravates behavioral adaptation and makes the management of these children more difficult.
ConclusionsIn the absence of a comparable study in the literature, the present is conducting future studies on the behavioral profile of children with CMD to obtain a better understanding of their difficulties in everyday life and to develop interventions adapted to their families
Disclosure of InterestNone Declared
Familial Autism Spectrum Disorder : A clinical study from South Tunisia
- I. Boujelben, M. Chaabane, I. Ben ayed, D. Ben Touhemi, N. Gharbi, M. Guirat, I. HajKacem, H. Ayadi, H. Kamoun, Y. Moalla
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S390-S391
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Introduction
Autism Spectrum Disorder (ASD) is a multifactorial neurodevelopmental disorder, with both contribution of genetic and non-genetic factors. A collaboration of de novo mutations and prenatal with postnatal environmental factors are likely to play a role. ASD can be syndromic or non-syndromic. The etiology of non-syndromic ASD is still relatively undefined due to its genetic heterogeneity. Contrary to non-syndromic ASD, syndromic ASD is often associated with chromosomal abnormalities or monogenic alterations. Familial cases of ASD support the strong genetic component of ASD.
ObjectivesTo collect clinical arguments supporting a genetic cause of autism spectrum disorder.
MethodsWe present a clinical study of familial cases of ASD. The families were recruited as part of a collaborative project between the department of Medical Genetic and the department of Child Psychiatry in Hedi Chaker Hospital, Sfax, Tunisia. The clinical and paraclinical data were collected retrospectively.
ResultsOur study included 11 unrelated families from southern Tunisia, each with two ASD children, among them four couples of twins. Most families (80%) are consanguineous belonging to a middle socioeconomic class. None of the parents suffered from psychiatric disorder and a familial history of autism was reported in one family. Perinatal history, including advanced maternal or paternal age, fetal suffering and/or gestational problems, was found in 35% of cases.
The average age was 9.89 ± 3.787 (3 to 17 years) with a balanced sex-ratio.
ASD was syndromic in seven out of 11 families: facial dysmorphism in half of cases (6/11 families) and/or another comorbidity in 25% of cases (celiac disease, congenital heart disease or idiopathic hydrocephaly). ASD was associated with other(s) neurodevelopmental disorder(s) in all children. Most of cases (14/22) had delayed psychomotor development and all of them had intellectual disability with various degrees. Epilepsy was identified in three cases belonging to unrelated families. Other behavioral problem was identified in 65% of cases.
When the autism spectrum disorder is syndromic and/or associated with other(s) neurodevelopmental(s) disorder(s), this points more towards a genetic origin.
ConclusionsOur study highlights the interest of clinical investigations to determine genetic risk factors of ASD. The identification of a genetic cause in familial cases would contribute not only to better understand the pathological processes of ASD but also to provide an appropriate genetic counseling.
Disclosure of InterestNone Declared
Radiation damage studies of nuclear ceramics using the JANNUS-Saclay triple -ion beam irradiation platform
- P. Trocellier, S. Miro, Y. Serruys, É. Bordas, H. Martin, N. Chaâbane, S. Pellegrino, S. Vaubaillon, J.P. Gallien
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- Journal:
- MRS Online Proceedings Library Archive / Volume 1298 / 2011
- Published online by Cambridge University Press:
- 08 March 2011, mrsf10-1298-r07-01
- Print publication:
- 2011
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The third accelerator of the multi-ion irradiation platform JANNUS (Joint Accelerators for Nanosciences and NUclear Simulation), a 6SDH-2 Pelletron from National Electrostatic Corporation, Middleton was installed at Saclay in October 2009. The first triple beam irradiation combining Fe, He and H ion beams has been performed in March 2010 on a Fe-12Cr model ODS alloy. In the first part of this paper, we give a technical description of the triple beam facility. Then, we present its performances and experimental capabilities. Typically, damage dose up to 100 dpa can be reached in 10 hours irradiation with heavy ion beams, with or without simultaneous bombardment by protons, helium-4 ions or any other heavy ion beam. In the second part of this paper, we illustrate some recent experiments relative to advanced nuclear ceramics and composite materials developed in the frame of the Generation IV Forum research program or for fusion applications.