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A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome.
J Intellect Disabil Res. 2007 May; 51(Pt 5):350-65.JI

Abstract

BACKGROUND

Prader-Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be found in autistic spectrum disorders and lesional pathologies of the frontal lobe. In both cases, such symptoms have been related to dysfunctions in frontal cognitive processes such as attention, working memory and executive functions. This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS.

METHODS

The sample comprised 16 individuals with a genetically confirmed PWS diagnosis. Subjects' IQ (Wechsler Adult Intelligence Scale), academic level, laterality and body mass index (BMI) were calculated. Attention, memory and executive functions were analysed using standard, widely employed neuropsychological tests. We compared the results of the sample group with the general population. Correlation analyses were carried out with IQ, academic level and BMI.

RESULTS

In all the neuropsychological measures focusing on attention, executive functions and visuoperceptual organization, the study sample scored significantly lower than the normative reference population. The scores of the tests used for measuring immediate memory were also significantly lower when trials required sequential processing, although not when they required simultaneous processing. In the memorization of a list of words, subjects showed an initial deficit which disappeared with repetition, enabling them to obtain scores similar to the reference population. No significant correlations were found with BMI, and a higher IQ or academic level did not improve scores in the majority of tests.

CONCLUSIONS

The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders.

Authors+Show Affiliations

University of the Basque Country, Faculty of Psychology, Donostia, Spain. Joseba.Jauregi@ehu.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17391252

Citation

Jauregi, J, et al. "A Neuropsychological Assessment of Frontal Cognitive Functions in Prader-Willi Syndrome." Journal of Intellectual Disability Research : JIDR, vol. 51, no. Pt 5, 2007, pp. 350-65.
Jauregi J, Arias C, Vegas O, et al. A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. J Intellect Disabil Res. 2007;51(Pt 5):350-65.
Jauregi, J., Arias, C., Vegas, O., Alén, F., Martinez, S., Copet, P., & Thuilleaux, D. (2007). A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. Journal of Intellectual Disability Research : JIDR, 51(Pt 5), 350-65.
Jauregi J, et al. A Neuropsychological Assessment of Frontal Cognitive Functions in Prader-Willi Syndrome. J Intellect Disabil Res. 2007;51(Pt 5):350-65. PubMed PMID: 17391252.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. AU - Jauregi,J, AU - Arias,C, AU - Vegas,O, AU - Alén,F, AU - Martinez,S, AU - Copet,P, AU - Thuilleaux,D, PY - 2007/3/30/pubmed PY - 2007/7/4/medline PY - 2007/3/30/entrez SP - 350 EP - 65 JF - Journal of intellectual disability research : JIDR JO - J Intellect Disabil Res VL - 51 IS - Pt 5 N2 - BACKGROUND: Prader-Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be found in autistic spectrum disorders and lesional pathologies of the frontal lobe. In both cases, such symptoms have been related to dysfunctions in frontal cognitive processes such as attention, working memory and executive functions. This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS. METHODS: The sample comprised 16 individuals with a genetically confirmed PWS diagnosis. Subjects' IQ (Wechsler Adult Intelligence Scale), academic level, laterality and body mass index (BMI) were calculated. Attention, memory and executive functions were analysed using standard, widely employed neuropsychological tests. We compared the results of the sample group with the general population. Correlation analyses were carried out with IQ, academic level and BMI. RESULTS: In all the neuropsychological measures focusing on attention, executive functions and visuoperceptual organization, the study sample scored significantly lower than the normative reference population. The scores of the tests used for measuring immediate memory were also significantly lower when trials required sequential processing, although not when they required simultaneous processing. In the memorization of a list of words, subjects showed an initial deficit which disappeared with repetition, enabling them to obtain scores similar to the reference population. No significant correlations were found with BMI, and a higher IQ or academic level did not improve scores in the majority of tests. CONCLUSIONS: The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders. SN - 0964-2633 UR - https://www.unboundmedicine.com/medline/citation/17391252/A_neuropsychological_assessment_of_frontal_cognitive_functions_in_Prader_Willi_syndrome_ L2 - https://doi.org/10.1111/j.1365-2788.2006.00883.x DB - PRIME DP - Unbound Medicine ER -