ABSTRACT
BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene and is characterized by global developmental delays and autism spectrum disorder (ASD). Based on several converging lines of preclinical and clinical evidence supporting the use of insulin-like growth factor-1 (IGF-1) in PMS, this study aims to follow-up a previous pilot study with IGF-1 to further evaluate this novel therapeutic for core symptoms of ASD in children with PMS. METHODS: Ten children aged 5-9 with PMS were enrolled. Participants were randomized to receive IGF-1 or placebo (saline) using a 12-week, double-blind, crossover design. Efficacy was assessed using the primary outcome of the Aberrant Behavior Checklist-Social Withdrawal (ABC-SW) subscale as well as secondary outcome measures reflecting core symptoms of ASD. To increase power and sample size, we jointly analyzed the effect of IGF-1 reported here together with results from our previous controlled trail of IGF-1 in children with PMS (combined N = 19). RESULTS: Results on the ABC-SW did not reach statistical significance, however significant improvements in sensory reactivity symptoms were observed. In our pooled analyses, IGF-1 treatment also led to significant improvements in repetitive behaviors and hyperactivity. There were no other statistically significant effects seen across other clinical outcome measures. IGF-1 was well tolerated and there were no serious adverse events. LIMITATIONS: The small sample size and expectancy bias due to relying on parent reported outcome measures may contribute to limitations in interpreting results. CONCLUSION: IGF-1 is efficacious in improving sensory reactivity symptoms, repetitive behaviors, and hyperactivity in children with PMS. Trial registration NCT01525901.
Subject(s)
Chromosome Disorders , Insulin-Like Growth Factor I , Child , Chromosome Deletion , Chromosome Disorders/drug therapy , Chromosome Disorders/genetics , Chromosomes, Human, Pair 22 , Humans , Insulin-Like Growth Factor I/therapeutic use , Pilot ProjectsABSTRACT
Autism spectrum disorder (ASD) affects individuals across all racial and ethnic groups, yet rates of diagnosis are disproportionately higher for Black and Hispanic children. Caregivers of children with ASD experience significant stressors, which have been associated with parental strain, inadequate utilization of mental health services and lower quality of life. The family peer advocate (FPA) model has been utilized across service delivery systems to provide family-to-family support, facilitate engagement, and increase access to care. This study used a randomized controlled design to examine the efficacy of FPAs in a racially and ethnically diverse sample. Results demonstrate significantly increased knowledge of ASD and reduced levels of stress for caregivers who received the FPA intervention as compared to treatment as usual.
Subject(s)
Autism Spectrum Disorder/nursing , Black or African American/psychology , Caregivers/psychology , Family Therapy , Hispanic or Latino/psychology , Parents/psychology , Stress, Psychological/therapy , Adult , Child , Child, Preschool , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Mental Health Services , Patient Acceptance of Health Care/psychology , Peer Group , Quality of Life , Single-Blind MethodABSTRACT
Entre 1993 y 1998 hemos estudiado 91 casos de esclerosis en placas (EM). Su diagnóstico ha sido hecho siguiendo los criterios clínicos de Poser y los criterios de resonancia magnética de Paty, Asbury y Herndon. Todos ellos fueron estudiados por uno de los presentadores en el Instituto Nacional de Ciencias Neurológicas "J.O. Trelles" y en RESOMASA. La enfermedad predomina, como es clásico considerar, en el sexo femenino, comenzó en la mayoría de nuestros sujetos entre los 20 y los 40 años y la mayoría de las formas fueron del tipo remisión recaídas. Todos nuestros pacientes son de origen europeo o mayoritariamente europeo hasta donde es posible evaluar por el aspecto fenotípico y por sus apellidos. La mayoría proviene de la costa, sobre todo de Lima y alrededores. No hemos encontrado, hasta el momento, ningún paciente de origen amerindio. Concluimos que la esclerosis múltiple no es una enfermedad rara en el Perú como se creía clásicamente e invocamos a iniciar un estudio epidemiológico multicéntrico para determinar con certeza las características epidemiológicas de la enfermedad.
