Smith-Magneis syndrome: behavioural phenotype mimics ADHD.
نویسنده
چکیده
A mentally retarded 7-year-old male child presented with inattention and hyperactivity which was initially diagnosed as attention deficit hyperactivity disorder (ADHD). However, a careful evaluation of symptomatology along with clues provided by specific features of facial dysmorphism in this case along with genetic testing clinched the diagnosis of Smith-Magneis syndrome the behavioural phenotype of which closely resembles ADHD.
منابع مشابه
[Can the behavioural phenotype of fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?].
INTRODUCTION Fragile X syndrome (FXS) reveals itself as dysmorphic stigmata, systemic manifestations, neurological symptoms and cognitive-behavioural manifestations. Mental retardation (MR) and attention deficit hyperactivity disorder (ADHD) nearly always appear as examples of this last case, but most patients also present a series of fairly common behavioural characteristics. The most characte...
متن کاملCognitive and Behavioural Characterisitcs of Children with Smith-magenis Syndrome
Cognitive and Behavioural Characteristics of Children with Smith-Magenis Syndrome by Carolyn Webber The study aimed to identify behavioural and cognitive characteristics in 29 children with Smith-Magenis syndrome. Cognitive assessments were undertaken on the children, and detailed interviews assessing sleep patterns, maladaptive behaviours, self-injury, hyperactivity and autism were carried out...
متن کاملThe emergence and stability of attention deficit hyperactivity disorder in boys with fragile X syndrome.
BACKGROUND Children with fragile X syndrome (FXS) are at high risk for developing a range of behavioural disorders, including attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). However, very few studies have investigated the comorbid profile of FXS and ADHD and the possible dissociation from the FXS and ASD profile. The present study examined the relationship o...
متن کاملA novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.
Current advances in genetic knowledge and analysis have facilitated the shift in emphasis from single gene disorders to complex traits such as cancer and atopic disorders where changes in more than one gene usually contribute to the disease phenotype. A challenging area of complex trait research is the determination of the genetic basis of behavioural phenotypes. Early studies in this area focu...
متن کاملAtlas of Genetics and Cytogenetics in Oncology and Haematology
Microdeletions are often characterised by a complex clinical and behavioural phenotype resulting from the imbalance of normal dosage of genes located in that particular chromosomal segment. In this review we include the present state of art and a delineation of the future approach to study the candidate genes in the microdeletion syndromes resulting from unequal homologous recombination at meio...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- BMJ case reports
دوره 2014 شماره
صفحات -
تاریخ انتشار 2014