Sensory processing and adaptive behavior in Phelan-McDermid syndrome: a cross-sectional study

Abstract

Phelan-McDermid syndrome (PMS) is a genetic disorder caused by a mutation or deletion of the SHANK3 gene (chromosome 22q13.3), characterized by different sensory processing anomalies. The objective of this study is to expand and provide a detailed definition of the sensory profile of patients with PMS. The secondary objective was to examine the relationship between sensory patterns and adaptive behavior. A cross-sectional study was carried out among 51 Spanish patients with a confirmed genetic diagnosis of PMS. All the participants’ parents completed the Short Sensory Profile-Spanish (SSP-S) and the Adaptive Behavior Assessment System II (ABAS-II). Correlational, multiple regression and hierarchical cluster analyses were performed. An atypical sensory profile was identified in almost 75% of PMS patients. Definite differences were found among scores; nonetheless, sub-threshold values were observed in tactile sensitivity, underresponsive/seeks sensation, auditory filtering, and low energy/weak sensory categories. Conceptual, social, and practical domains, as well as the General Adaptive Composite (GAC) of the ABAS-II showed extremely low scores (i.e., <70). Significant correlations were found (p<0.005) between SSP-S scores and the conceptual, social, practical, and GAC index of the ABAS-II, whereby higher SSP-S scores were associated with better skills and higher adaptive performance. The cluster analysis indicated that the group with the largest mutation size (7.23 Mb) showed the greatest sensory processing difficulties and very low adaptive skills.Conclusions: Patients with PMS show an atypical sensory profile, which correlates with limitations in general adaptive behaviors. What is Known:• PMS sensory processing difficulties were associated with a pattern of underresponsive/seeks sensation, low energy/weak, and tactile hyporeactivity.• Sensory processing difficulties have been associated with limitations in the development of appropriate adaptive communication and interaction behaviors. What is New:• Sensory definite differences associated with tactile hyperreactivity, as well as significant effects of underresponsiveness/seeks sensation and auditory filtering categories on the adaptive abilities were found in SHANK3deletionpatients.• Cluster analysis suggests that smaller mutation sizes were related to better sensory processing and higher adaptive skills, while patients with larger deletion sizes have greater adaptive difficulties and worse sensory processing skills.

Prospective One-Year Follow-Up of Sensory Processing in Phelan–McDermid Syndrome

“…On the other hand, the results of our study have identified that the tactile sensory reactivity skills of the sample of participants with SSP are the only ones that showed significant changes after one year of follow-up. Compared to our previous results [ 23 ], a significant qualitative change has been identified in the signs associated with tactile sensitivity, mostly signs of hyperreactive behavioral responses. In this case, the changes indicate a probable, rather than definite, difference in participants with PMS.…”

“…For the follow-up of the participants in the first phase of the study [ 23 ], the Spanish Short Sensory Profile (SSP-S) [ 39 ] was administered after the first assessment was completed. This questionnaire was completed by the primary caregiver.…”

“…In the case of PMS, atypical sensory responses are characterized by a higher identification of signs of sensory hyporreactivity, especially a reduced pain response and differences in auditory information processing. In addition, signs of tactile hyperreactivity appear to be common in all studies conducted, as well as fewer signs of auditory hyperreactivity and sensory seeking [ 1 , 3 , 20 , 21 , 22 , 23 ].…”

Updated consensus guidelines on the management of Phelan–McDermid syndrome

“…Self‐injurious behaviors in PMS include head‐banging, skin‐picking, and biting. Sensory reactivity symptoms are common and most frequently characterized by hyposensitivity across sensory domains (Droogmans et al, 2020; Serrada‐Tejeda et al, 2022; Tavassoli et al, 2021; Mieses et al, 2016). An increased pain threshold is prevalent in PMS and can be associated with reduced response to potentially dangerous injuries (De Rubeis et al, 2018).…”

Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction

“…Individuals with Phelan McDermid Syndrome have characteristic traits including neonatal hypotonia, typically severe developmental delays (particularly in speech/language development), associated ASD, and some minor dysmorphic traits of the face and extremities ( 75 , 76 ). A number of affected individuals develop other associated conditions including seizures ( 75 , 77 ), sensory processing differences ( 78 , 79 ), and significant gastrointestinal disorders ( 80 ). Of additional import, individuals with this syndrome often have a broad and unsteady gait, and at times a loss of purposeful hand movements, which suggest cerebellar dysfunction, further implicating cerebro-cerebellar networks ( 71 ).…”