Analysis of the Sensory Profile in Children with Smith–Magenis Syndrome

Abstract

This study systematically assessed sensory processing in 34 children, aged 3-14 years, with Smith-Magenis syndrome (SMS) using the Sensory Profile Caregiver Questionnaire. Scores for the SMS cohort were significantly different from scores of the national sample of children with and without disabilities in all Sensory Profile categories and quadrants (p < .001). No main effects of age or gender were found, but an interaction effect of age by gender was found in Modulation of Sensory Input Affecting Emotional Responses, in which older females presented with the lowest scores. A significant decline over time was found in the Seeking pattern, reflecting increased vulnerability (p < .05). Nonsignificant trends suggest more vulnerabilities for older versus younger children, especially older females. The neurobehavioral phenotype in children with SMS is expanded by this description of sensory processing. How children with SMS experience and respond to everyday sensations informs multidisciplinary team decisions.

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

“…AES is not a substitute for EEG/PSG, especially in populations with disturbed sleep). For this study, in which multiple days of continuous home measurements were obtained, activity watches were a useful alternative to EEG studies that might otherwise contribute to disrupted sleep in a sensory challenged SMS population (Hildenbrand &Smith 2012). Individuals with SMS were 80% compliant with wrist actigraphy monitoring (similar to the SIB group), when asked to wear a watch for an extended time (Table I).…”

“…Approximately 90% of cases are due to heterozygous deletion that includes the RAI1 gene, while the remaining 10% are caused by de novo RAI1 mutation (Girirajan et al 2006). Phenotypically, SMS overlaps with other neurodevelopmental disorders (NDD) that present with infantile hypotonia, speech and motor delays, cognitive and functional impairment, and behavioral and sensory processing issues that may lead to concomitant diagnosis of autism spectrum disorder (ASD) and/or psychiatric dual diagnosis (Gropman et al 2006;Hildenbrand &Smith 2012;Laje et al 2010b). Behaviorally, some of the key features of SMS include sleep-disturbances, hyperactivity and sudden changes in mood, and stereotypic, aggressive and self-injurious behaviors.…”

Auditory Phenotype of Smith–Magenis Syndrome

“…Hyperacusis is an emotional response to distressing sounds and is not a pathology of the auditory pathway, specifically. Individuals with SMS who are prone to behavioral problems, emotional disturbances, and a range of sensory processing difficulties, including distractibility and difficulty functioning in the presence of noise (Hildenbrand & Smith, 2012), may be more inclined to react disproportionately to sound. Moreover, the sleep disturbance observed in SMS may potentiate any underlying propensity for a disproportionate emotional response to noise (Job, 1996).…”

Intellectual and Behavioral Disabilities in Smith — Magenis Syndrome

“…Beyond 18 months, signs of developmental delay become increasingly obvious, with early stages of intense crying and sleepless nights. Within 2-3 years of age patients have a clear delay in language acquisition, with lalation [24][25]. Dysmorphic signs subsequently begin to become more evident, with facial hypotonia, and relative micrognathia.…”