Evolution of Stereotypies in Adolescents and Women with Rett Syndrome
Neurosciences & Neurology; Rett syndrome; hand stereotypies; retardation; movement-disorders; adult age; movement disorder; tone and motor problems; trajectory; characteristics; stereotypy
Stereotypies in Rett syndrome (RTT) are a diagnostic hallmark present in all stages of the disease, but descriptions of movement disorders in adults are very scant. Among 30 patients with RTT followed-up at San Paolo Hospital in Milan, we selected those aged >= 14 years and studied 12 patients (mean age 18.6 years, range: 14-31) with MECP2 mutations. Mean age at stereotypies onset was 19.4 months; stereotypies at onset tend to be maintained during evolution, while new stereotyped movements can be detected in the follow-up. All patients still present stereotypies involving separated or joined hands: most frequently mouthing, pill rolling, and twisting. We underline that stereotyped movements persist in older patients and can be useful to suspect RTT diagnosis in adult age in otherwise unclassified patients. (C) 2009 Movement Disorder Society
Vignoli A; La Briola F; Canevini M P
Movement Disorders
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.22595" target="_blank" rel="noreferrer noopener">10.1002/mds.22595</a>
Behavior problems in children with tuberous sclerosis complex and parental stress
cancer; families; adolescents; Neurosciences & Neurology; seizure; attention; epilepsy; disorders; autism; Psychiatry; hyperactivity; autism spectrum disorder; diagnostic-criteria; population; tuberous sclerosis complex; Behavioral Sciences; mental; behavioral problems; frequency; infantile spasms; methylphenidate; mixed seizure disorder; parenting stress; retardation; tsc1; tuberous sclerosis; trajectory; characteristics
Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their parents. About 40% of the pediatric patients presented clinically significant behavioral problems, most frequently involving symptoms of autism spectrum disorder, inattention, and hyperactivity. Higher seizure frequency, mixed seizure disorder, and low intellectual functioning placed the patient at significant risk for behavior problems. Almost 50% of participating parents reported experiencing clinically significant parenting stress, which was associated with specific characteristics of the child, including the presence of current seizures, a history of psychiatric diagnosis, low intelligence, and behavioral problems. Clinicians should be aware that behavioral problems are prominent in children with TSC. Referrals for behavioral intervention and monitoring of parental stress should be included in the medical management of children with TSC. (C) 2008 Elsevier Inc. All rights reserved.
Kopp C M C; Muzykewicz D A; Staley B A; Thiele E A; Pulsifer M B
Epilepsy and Behavior
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.yebeh.2008.05.010" target="_blank" rel="noreferrer noopener">10.1016/j.yebeh.2008.05.010</a>