Biomedical subjects

Elsa Excoffier

Publications and source records attributed to Elsa Excoffier.

2 recordsLinked to original sources

PubMed2006

[What is child attention deficit hyperactivity disorder?].

Prevalence of attention deficit hyperactivity disorder (ADHD) is around 5%. The main clinical criteria of ADHD are hyperactivity, impulsivity and attention deficit. Several clinical patterns are described. ADHD symptomatology change with age but always start before 7 years old. Comorbidity is frequent and it is important to distinguish ADHD and another differential diagnostic. Disorder mechanism is complex and associate several factors mainly neurobiologicals and genetics. For diagnostic, we use a clinical approach. Some questionnaires, cognitive and attentional tests can help for. It is important to take into account parent, child, caregiver and professor observations. Developmental evaluation is necessary for diagnostic and therapeutic strategy.

Attention Deficit Disorder with Hyperactivity↗

PubMed2005

Specific genetic disorders and autism: clinical contribution towards their identification.

Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.

Autistic Disorder↗