Neuropsychological Phenotype in Wolf-Hirschhorn Syndrome
Pages 101-111
Maria Cristina Cossu, Annalisa Albergo, Claudia Galluzzi, Cristiana Stefani and Gabriella Antonucci

DOI: http://dx.doi.org/10.6000/2292-2598.2014.02.02.3

Published: 26 September 2014

Abstract: The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that causes a range of intellectual disability from mild to severe. In this study, we used standard tools to psychometrically characterize the specific neuropsychological phenotype of WHS. We studied 57 individuals with WHS, ranging in age from 2.6 to 28.6 years representing 70% of the certified Italian WHS population. Results obtained by administering Griffiths’ Mental Developmental Scales and the Vineland Adaptive Behavior Scale revealed a typical WHS neuropsychological phenotype characterized by specific strengths and weaknesses. Despite their severe cognitive impairment, in both scales, patients showed better communication and social interaction skills compared to visuo-motor abilities.

Results of our study could bring to the development of new and more effective treatments for individuals affected by WHS: based on neuropsychological phenotype description, it should be possible to design specific rehabilitation programs. These programs would then be aimed at improving rehabilitation protocols to optimize the developmental potential and personal independence of individuals with WHS and thus to improve their quality of life.

Quality of Life and its Determinants in Preschool Children with Down Syndrome
Pages 12-20

M.E. Weijerman, P.E.M. van Schie, M.J.M. Volman, A.M. van Furth and R.J.B.J. Gemke

DOI: http://dx.doi.org/10.6000/2292-2598.2013.01.02.2

Published: 06 May 2014

Abstract: Objective: Children with Down syndrome (DS) show a delay in cognitive and motor development and have various concomitant health problems. We compared Health-Related Quality of Life (HRQoL) in preschool children with DS with a reference group, and investigated child-related factors (i.e., developmental quotient, adaptive function, health problems, problem behaviour), and maternal level of education on HRQoL.

Method: In a cohort of 55 children with DS, HRQoL was measured with the TNO-AZL preschool children Quality of Life Questionnaire (TAPQoL). Data from a reference group were used for comparison. Developmental Quotient (DQ) was assessed with the Bayley Scales of Infant Development II, adaptive function with the Pediatric Evaluation of Disability Inventory, health problems were derived from the medical file, and behavioural problems were measured with the Child Behaviour Checklist.

Results: Children with DS (N=55; mean age 41.7 months) scored significantly lower on the TAPQoL domains lung and stomach problems, motor function and communication compared to the reference group. DQ had a significant negative correlation with the domains lung problems and liveliness. Children with DS with respiratory or gastro-intestinal problems showed significant lower scores on lung problems and communication. Problem behavior had a significant negative correlation with the domains sleeping, appetite and social function. A low level of maternal education correlated negatively with positive mood. Adaptive function and congenital heart defect (CHD) did not significantly correlate with HRQoL.

Conclusion: Preschool children with DS show a lower HRQoL on particular domains of functioning compared to a normative sample. HRQoL of children with DS is correlated to DQ, respiratory and gastro-intestinal health problems, problem behaviour and maternal education, but not to CHD and adaptive function.