2026-07-08 | Restless senses, restless sleep: Exploring the sensory-sleep link in Phelan-McDermid syndrome. A Cross-Sectional Exploratory Study.
Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by SHANK3 gene haploinsufficiency. Individuals with PMS often exhibit developmental delays, language deficits, and neurological and psychiatric symptoms that frequently overlaps with autism. Sleep disturbances and sensory reactivity differences are also highly prevalent in this population, yet their relationship remains unexplored. Given prior research in autism, which has identified links between sensory sensitivities and sleep difficulties, this study aims to investigate the association between sensory processing differences and sleep disturbances in children with PMS. We used 2 standardised questionnaires: The Children's Sleep Habit Questionnaire (CSHQ) and the Child Sensory Profile 2 (SP-2) to measure sleep behaviour and sensory reactivity differences in families with children with PMS (n=40) (median age of caregivers = 42.95, median age of children = 10.52 years). We performed descriptive statistics, spearman correlations and stepwise regressions to examine relationships between sensory reactivity and sleep quality. Findings revealed significant correlations between sleep difficulties and sensory sensitivity, sensory registration, and sensory seeking. Further analysis of specific sensory modalities identified correlations between sleep difficulties and touch, movement and oral processing. Stepwise regression demonstrated that sensory seeking and oral sensitivity were significant predictors of sleep disturbances, explaining 19.9% and 34.6% of the variance, respectively. This study highlights a significant relationship between sensory reactivity differences and sleep disturbances in children with PMS. Findings suggest that sensory processing differences, particularly oral sensitivity and sensory seeking, contribute to sleep difficulties. These insights underscore the need for targeted interventions to improve sleep quality in individuals by addressing sensory sensitivities.
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2026-06-17 | Effects of Behavior Analytic Intervention on Post-Feeding Rumination in a Child With Phelan-McDermid Syndrome
This case report evaluated the effects of behavior analytic intervention on post-feeding rumination in a 10-year-old child with Phelan-McDermid Syndrome (PMS), a genetic disorder associated with intellectual and neurodevelopmental disabilities and co-occurring medical abnormalities. A preintervention functional analysis screening conducted with the child suggested that rumination was maintained by automatic reinforcement. Non-contingent reinforcement (NCR) consisting of fixed-time (FT) presentation of preferred foods was associated with decreased rumination within a concurrent multiple baseline design across lunch meals and snacks combined with a snack-only reversal design analysis. Low rumination rates continued during an intervention withdrawal phase (lunch) and a phase of systematic schedule fading (snack). Social validity measures reported by the child’s mother and therapists revealed positive acceptance and approval of the intervention plan.
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2026-04-22 | Data from: Developmental CA2 perineuronal net reduction restores social memory in Shank3 mutant mice
Individuals with Autism Spectrum Disorder (ASD) and related neurodevelopmental conditions, like Phelan-McDermid syndrome (PMDS), exhibit social recognition deficits. Shank3B knockout (KO) mice, a genetic model with relevance to ASD and PMDS, have deficits in social memory in adulthood, but the developmental mechanisms underlying this dysfunction remain unknown. We found that Shank3B KOs have deficits in short-term social recognition during development that persist into adulthood, along with CA2 network aberrations. In CA2, perineuronal nets (PNNs), extracellular matrix structures, support social memory in adult mice. In developing CA2, we found excessive PNNs in KOs, greater sequestration of the guidance cue semaphorin-3A, and overgrowth of afferents. Reduction of PNN levels restored semaphorin-3A, afferent input to CA2, and social recognition, which persisted into adulthood and partially normalized CA2 network activity. These findings suggest that excess CA2 PNN formation impairs social recognition by disrupting afferent input, effects that are reversible by early life intervention.
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