591 ISSN 1745-5111 Pediatric Health (2010) 4 (6), 591–601 10.2217/PHE.10.65 © 2010 Future Medicine Ltd As definitions of health have developed to acknowledge not only the clinical disease but also its impact, physical disability and psy- chiatric morbidity have been attracting more attention as an area of research due to the major implications they have on quality of life [1] . A physical disability is defned as the lack of ability or restricted ability to perform activities requiring physical effort or mobility due to an impairment, and a dependence on others in order to perform activities of daily living (ADL) and instrumental activities of daily living [101] . The burden of physical disability is asso- ciated with escalating healthcare expenses, increasing healthcare demand, higher rates of comorbid conditions and higher rates of mor- bidity and mortality [2–4] . Mental health prob- lems in children and adolescents with various chronic physical illnesses have been reported in various studies in the literature. Compared with the physically healthy population, approx- imately 20–30% of children and adolescents with physical illnesses and disabilities are also diagnosed with one or more psychiatric disor- ders [5] . While a larger number of studies have focused on the comorbidity of psychiatric prob- lems with various physical illnesses (neurologi- cal, cardiovascular, gastro-intestinal disorders and endocrine disorders), less research to an extent has documented the general prevalence rate of psychiatric disorders in children and adolescents with genetic disorders that lead to a physical disability and illness. Studies have found that children with certain genetic disorders implicating a physical disabil- ity suffer from various mental health illnesses such as pervasive developmental disorders, anxi- ety disorders, mood disorders and intellectual disabilities [6,7] . The presence of both physical and psychological ailments in this popula- tion suggests a diminished quality of life and impaired psychological adjustment [8] . For the purpose of this review, we focus on genetic disorders that most commonly cause physical or medical problems and psychiatric comorbidities according to a literature search by the authors [9–11] . These disabilities include: Klinefelter syndrome (KS), Turner syn- drome (TS), neurofbromatosis type 1 (NF1), Duchenne muscular dystrophy (DMD), hemo- philia, tuberous sclerosis complex (TSC), myo- tonic dystrophy type 1 (DM1), fragile X syn- drome (FXS), and velo-cardio-facial syndrome (VCFS; 22q11.2 deletion syndrome). This by no means is an exhaustive list and excludes rarer entities such as Rett syndrome and the mucopolysaccharideses type III and rarer dis- orders such as Sanflippo type A and B patients, and the newly emerging genetic causes of syndromic autism. Methods The search yielded a large number of abstracts, which were screened according to their rel- evance. The literature search was restricted to articles dating back to 1981 until the present day. The following genetic disorders were used as keywords: ‘Duchenne Muscular Dystrophy’, ‘Neurofibromatosis’, ‘Myotonic Dystrophy’, ‘Hemophilia’, ‘Turner Syndrome’, ‘Klinefelter Syndrome’, ‘Tuberous Sclerosis Complex’, review Psychiatric comorbidities in common genetic disorders with physical disability Fadi T Maalouf †1,2 , Camelia Hatoum 1 , Mia Atwi 1 & Rose-Mary N Boustany 3 The burden of genetic disorders associated with physical disabilities and psychiatric disorders is connected to increasing healthcare expenses and demands on the patients and their caregivers. Psychiatric comorbidities such as anxiety and mood disorders affect a large number of children and adolescents with genetic disorders, leading to poor quality of life and impaired psychological adjustment. Research on this population is scarce compared with studies on the comorbidity of psychiatric problems with physical illnesses (e.g., endocrine disorders and neurological problems). The aim of this review is to focus on the most prevalent genetic disorders that cause physical disability and are most commonly associated with psychiatric disorders in children and adolescents. These include Duchenne muscular dystrophy, neurofbromatosis, myotonic dystrophy, hemophilia, Turner syndrome, Klinefelter’s syndrome, tuberous sclerosis complex, fragile X syndrome and velo-cardio-facial syndrome. 1 Department of Psychiatry, Faculty of Medicine, American University of Beirut, PO Box 11 0236, Riad El Solh 11072020, Beirut, Lebanon 2 University of Pittsburgh, Pittsburgh, Pennsylvania, USA 3 Program in Neurogenetics, Departments of Pediatrics & Biochemistry, Faculty of Medicine, American University of Beirut, Beirut, Lebanon † Author for correspondence: fm38@aub.edu.lb Keywords • Duchenne muscular dystrophy • fragile X syndrome • hemophilia • Klinefelter’s syndrome • myotonic dystrophy • neurofbromatosis type 1 • physical disability • psychiatric disorder • tuberous sclerosis complex • Turner syndrome • velo-cardio-facial syndrome part of For reprint orders, please contact: reprints@futuremedicine.com