The Discrepancy between Performance-Based Measures and Questionnaires when Assessing Clinical Outcomes and Quality of Life in Pediatric Patients with Neurological Disorders.

In clinical outcome assessment, the relation between performance-based measures and questionnaire ratings of the same domain is weak, but correlations between questionnaires proposed for the evaluation of different domains are strong. The present study aims to illustrate these phenomena in a group of patients with neurofibromatosis type 1 (NF1) and to propose an explanatory hypothesis. A single neuropsychologist interviewed the parents about the child's situation and current difficulties and then assessed this parental view as overall positive or overall negative. The same assessor then administered the Wechsler Intelligence Scales and neuropsychological tests to 78 children and adolescents with NF1 (5-18 years). Parents then completed the Child Behavioral Checklist (CBCL), the Conners' Parent Rating Scale, the Behavior Rating Inventory of Executive Function (BRIEF), as well as questionnaires assessing quality of life, impact of the medical disorder, and their own difficulties. All questionnaires were inter-correlated (r = 0.29 - 0.84) and associated with the overall positive or negative parental view of the child's progress (effect size = 0.41-1.46). Conversely, questionnaires were weakly or not significantly related to intelligence, cognitive measures, or clinical severity. In conclusion, the parental view of the child's progress was related to the answers to questionnaires assessing quality of life or strengths and difficulties of patients with a neurological disorder. This factor should be assessed independently and taken into account when assessing clinical outcome.

Neuropsychological evaluation and parental assessment of behavioral and motor difficulties in children with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder, with large inter and intrafamilial clinical variability and uncertain prognosis. In children with NF1 cognitive disorders, learning difficulties and behavioral problems are common. The present study aims to establish the neuropsychological and behavioral profiles of 78 patients with NF1, aged between 5 and 18 years, and to examine the relationship between these profiles and the transmission of NF1 (sporadic vs. familial), clinical manifestations, and environmental factors. We used several questionnaires completed by parents and neuropsychological tests. The results confirmed specific neuropsychological disabilities in children with NF1, especially involving visuospatial and fine motor skills, learning difficulties and behavioral problems. Cognitive difficulties were significantly more frequent in patients with familial than in those with sporadic NF1. All parental questionnaires were correlated with each other, but parental reports were not associated with FSIQ, SES, school status, and clinical manifestations of the disease. Neuropsychological tests were poorly related to parental reports of cognitive and behavioral difficulties.

[Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)]. / Le syndrome de Meckel. Sa variabilité d'expression peut faire obstacle au diagnostic prenatal (à propos de deux observations familiales).

The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.