Behavioral problems, biochemical, and anthropometric characteristics of patients with Prader–Willi syndrome. Issue 2 (July 2015)

• Record Type: Journal Article
• Authors: Salah, Ebtissam M.; El-Bassyouni, Hala T.; Kholoussi, Shams; Shehab, Marwa; Kandeel, Wafaa A.
• Is Part Of: Middle East journal of medical genetics. Volume 4:Issue 2(2015:Jul.)
• Publication Date: 2015-07
• Subjects: adiponectin -- behavioral phenotype -- body fat percentage -- intelligence -- leptin -- Prader–Willi syndrome; Medical genetics -- Periodicals; Medical genetics -- Middle East -- Periodicals; Genetic disorders -- Periodicals; Genetic disorders -- Middle East -- Periodicals; Genetic Diseases, Inborn -- Middle East -- Periodicals; Genetics, Medical -- Middle East -- Periodicals; 616.042
• DOI: 10.1097/01.MXE.0000465681.35933.7a
• Languages: English
• ISSNs: 2090-8571

Abstract

Abstract : Background: Prader–Willi syndrome (PWS) is a genetic disorder characterized by a recognizable pattern of physical findings with significant cognitive, neurologic, endocrine, and behavioral abnormalities. Objective: The aim of this work was to study behavioral, cognitive, hormonal, and anthropometric characteristics of children with PWS compared with an age-matched and sex-matched control group. Participants and methods: This was a case–control study of 13 children and adolescents with PWS (mean age 7.69±4.44 years), and 14 age-matched and sex-matched non-PWS controls were enrolled. Measurement of anthropometric parameters and body fat percentage, screening of children's psychosocial dysfunction, assessment of intellectual function, and estimation of plasma adiponectin and leptin levels were carried out in all the participants studied. A specific questionnaire for assessment of the behavioral phenotype of PWS was filled by the parents. Results: PWS patients had significantly higher body fat percentage, adiponectin, and leptin levels compared with the controls (38.84±9.66 vs. 20.26±3.92, P <0.01; 38.61±13.43 vs. 24.32±6.04 ng/ml, P <0.01; 10.39±7.74 vs. 4±0.71 ng/ml, P <0.01, respectively). The majority of PWS patients (84.6%, 11/13) had mild to moderate intellectual disability. The most commonly registered behavior problems in PWS patients were hyperphagia and cognitive rigidity. Inattention was reported in 76.9% (10/13) of PWS versus 25% (3/14) of the controls. Conclusion: PWS patients have major behavioral problems that are not associated with the degree of hyperphagia or intellectual disability. The distinct body fat distribution in PWS patients is associated with significantly higher levels of adiponectin and leptin than their lean controls. Study of the neural and biochemical mechanisms of distinct behavior in PWS should be the primary focus of subsequent research.