Publications by authors named "Georges Challe"

Article Synopsis
  • Visual impairments are common in individuals with polyhandicap, yet they are often not properly assessed, making evaluations essential for effective treatment.
  • The study aimed to create and validate the Visual Assessment for People with Polyhandicap (VA-PLH), a straightforward scale to evaluate visual abilities, involving both a construction phase and field testing with specific participant criteria.
  • Results revealed that 83% of participants had ocular abnormalities, and 60% exhibited altered visual abilities; the final VA-PLH scale was found to be reliable and valid for assessing visual status, useful for both clinical practice and research.
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Purpose: To evaluate functional vision in patients with CHARGE syndrome (coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies, and ear anomalies) by using a new questionnaire entitled VISIOCHARGE.

Methods: Ophthalmological data including fundus description and visual acuity, when available, were extracted from the charts of 83 patients with CHARGE syndrome, and the VISIOCHARGE questionnaire was prospectively mailed to 55 of those patients. The answers from the 36 responders (18 males) allowed for the calculation of three scores that assessed distance vision, near vision, and overall ability scores.

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Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight subjects from four independent families affected by auditory neuropathy and optic atrophy. Whole-exome sequencing revealed biallelic mutations in FDXR in affected subjects of each family.

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Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected on the basis of their phenotype (spasticity of the lower limbs with cerebellar signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) (n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the national reference centre in a diagnostic setting (n = 98); and the index case of a four-generation family with autosomal dominant optic neuropathy but no spasticity linked to the SPG7 locus. We identified two SPG7 mutations in 23/134 spastic patients, 21% of the patients selected according to phenotype but only 8% of those referred directly.

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Background: Usher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient management choices, and for genetic counseling.

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