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โ† Trials
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Study of the Value of Trio Exome Sequencing in the Etiological Assessment of Specific Non-syndromic Language and Learning Disorders

RecruitingNAAges 3 Years - 40 YearsAllCentre Hospitalier Universitaire Dijon
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In plain words

What the trial is, and whether it could suit you

Specific language and learning disorders (SLLD) affect around 5-10% of school-aged children, or 1-2 child(ren) per class. SLLDs correspond to the impairment of a specific cognitive function and are divided into 5 categories: dyslexia, dysphasia, dyspraxia, dyscalculia and attention deficit hyperactivity disorder (ADHD) (DSM-5). In recent years, real progress has been made in their clinical diagnosis and management, thanks to a better description of these disorders in the DSM-5 and the advent of rehabilitative treatments (neuropsychology, speech therapy, occupational therapy, orthoptics, etc.). SLLD can occur in a sporadic or familial context (sibling involvement, a symptomatic parent, other relatives who may mimic dominant inheritance with variable expressivity and incomplete penetrance). It has long been suspected that SLLD is secondary to multifactorial inheritance, with a combination

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * Index case suffering from one or more severe learning disorders (requiring in-school help or intensive rehabilitation), justified by neuropsychological and/or speech therapy and/or occupational therapy assessments, reviewed by experts and supplemented if necessary within the framework of the study, and not yet having undergone genetic testing. * Index case aged 3 to 40 years * Sample may be taken from index case and 2 known biological parents * Consent signed by the parents and by the index case if major * Index case and parents covered by national health insurance Exclusion Criteria: * Index case and parents have a condition which, in the opinion of the investigator, would contraindicate the subject's participation in the study. * Intellectual disability confirmed by neuropsychological testing or strongly suspected clinically in the index case and/or his/her parents * Obvious syndromic diagnosis (syndrome or antecedents having definitely led to a developmental disorder) * Persons deprived of liberty by judicial or administrative decision, * Adults under guardianship, * Persons residing in a health or social establishment * Patients in critical situations * Pregnant, parturient or nursing women * Previous array CGH and/or Fragile X testing or any other targeted genetic examination (except standard karyotype).
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What it tests

  • Blood samples
  • Consultation for results delivery
  • Study Humanities and Social Sciences
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Where

1 site
CHU Dijon Bourgogne
Dijon, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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