Dados do Trabalho

Título

Sleep and Language in Smith-Magenis Syndrome: A case report

Introdução

Smith-Magenis Syndrome (SMS) is described as a deletion of the 17p11.2 locus that results in craniofacial abnormalities, behavioral changes, autistic traits and cognitive impairments (moderate level intellectual disability and significant disturbance in language and learning development), and sleep disturbances. Severe sleep disorders have been reported in MSS; however, the characterization of such disorders, mainly by objective methods, and the possible relationships with other behavioral and cognitive parameters typical of the syndrome are still important for the therapeutic planning of this population.

Objetivo

To characterize sleep-wake cycle parameters of a patient diagnosed with SMS using the Pittsburgh Sleep Questionnaire (PSQI) and by actigraphy and relate them with language data.

Métodos

The actigraph was placed on the non-dominant arm of the participant, a 20-year-old woman diagnosed with SMS, for 15 days. The language was assessed by the Peabody Test and the Token Test.

Resultados

PSQI data showed habitual sleep efficiency of 93.9%, increased sleep latency, decreased sleep duration, and indicative of the presence of sleep disturbance. The actigraphy showed that on average the time to sleep was 11:21 pm, time to get up was 5:43 am, time in bed was 7.46 hours, total sleep time 6.44 hours, sleep latency 1.28 hours, sleep efficiency was 85.83 % and time awake after sleep onset was approximately 1 hour. The language parameters were below expected for their age. The language sample was characterized by repetitive and persistent verbal behavior, difficulties in the use of linguistic strategies to repair communication breakdowns, and limited vocabulary production with reduced grammatical components. The analysis of the narrative structure showed a poor performance in practically all the items taken into account.

Conclusões

The actigraphy data confirmed most of the sleep parameters reported in the Pittsburgh questionnaire except for sleep efficiency, which was worse when recorded by actigraphy than in the subjective evaluation. These data indicate that the therapeutic planning of language disorders should consider the previous or combined treatment of sleep disorders considering the relationship between sleep disorders and language parameters already demonstrated in other studies.

Palavras -chave

Sleep; Smith-Magenis Syndrome; Language; Actigraphy.