Sleep in children and adolescents with Angelman syndrome: association with parent sleep and stress.

BACKGROUND: Sleep concerns are common in children with Angelman syndrome, with 20-80% of individuals having a decreased sleep need and/or abnormal sleep-wake cycles. The impact of these sleep behaviours on parental sleep and stress is not known. METHOD: Through the use of standardised questionnaires, wrist actigraphy and polysomnography, we defined the sleep behaviours of 15 children/adolescents with Angelman syndrome and the association of the child/adolescents sleep behaviours on parental sleep behaviours and parental stress. RESULTS: Both children/adolescents and their parents exhibited over 1 h of wake time after sleep onset and fragmented sleep. Prolonged sleep latency in the child was associated with parent insomnia and daytime sleepiness. Additionally, variability in child total sleep time was associated with parental stress. CONCLUSIONS: Poor sleep in children/adolescents with Angelman syndrome was associated with poor parental sleep and higher parental stress. Further work is warranted to identify the underlying causes of the poor sleep, and to relate these findings to daytime functioning, behaviour and the family unit.

Determining the amount, timing and causes of mortality among infants with Down syndrome.

OBJECTIVE: To examine the amount, timing and causes/correlates of infant mortality among newborns with Down syndrome. METHODS: Using the Tennessee Department of Health Birth, Hospital Discharge and Death records, infants were identified who were born with Down syndrome from 1990 to 2006. Those who died during the first year were separated into three groups (first day death, neonatal mortality, post-neonatal mortality) and data from the Birth and Death records were used to compare the three death groups and the survival group on correlates of mortality. RESULTS: Of 1305 infants born in Tennessee with Down syndrome from 1990 to 2006, 97 died within the first year, for a mortality rate of 74 per 1000. Most Down syndrome infant deaths occurred during the post-neonatal period (56%), although many occurred during the first day (27%). Newborns who died during the first day had significantly lower birthweight, 5-min Apgar scores and gestational lengths, whereas those who died in the post-neonatal period had significantly more heart-related causes of death (all Ps < 0.001). No associations were found in this sample between increased infant mortality and maternal age, education, race, marital status or familial urban residence. CONCLUSIONS: Infants with Down syndrome experience high rates of mortality occurring at three distinct times during the first year. These groupings are tied to specific, different causes of death.

Sleep patterns and daytime sleepiness in adolescents and young adults with Williams syndrome.

BACKGROUND: Sleep disorders are common in individuals with neurodevelopmental disorders and may adversely affect daytime functioning. Children with Williams syndrome have been reported to have disturbed sleep; however, no studies have been performed to determine if these problems continue into adolescence and adulthood. METHODS: This study examined overnight sleep patterns and daytime sleepiness in 23 adolescents and adults with Williams syndrome age 25.5 (8.0) years [mean (SD)]. Interviewer-administered sleep questionnaires were used to evaluate nighttime sleep behaviours and daytime sleepiness. Wrist actigraphy was used to evaluate sleep patterns. RESULTS: Although individuals in our sample averaged 9 h in bed at night, daytime sleepiness and measures of sleep disruption were common and comparable to those of other populations with neurodevelopmental disorders. These measures included reduced sleep efficiency [74.4 (7.0)%] with prolonged sleep latency [37.7 (37.3) min], increased wake time after sleep onset [56.1 (17.6) min], and an elevated movement and fragmentation index [14.3 (4.6)]. CONCLUSION: Adolescents and young adults with Williams syndrome were found to be sleepy despite averaging 9 h in bed at night. Implications are discussed for associated causes of sleep disruption and future polysomnographic evaluation.

Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders.

We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD). Structured sleep histories, validated questionnaires, actigraphy (4 weeks), and salivary cortisol and melatonin (4 days each) were collected. Compared to those with TD, adolescents/young adults with ASD had longer sleep latencies and more difficulty going to bed and falling asleep. Morning cortisol, evening cortisol, and the morning-evening difference in cortisol did not differ by diagnosis (ASD vs. TD). Dim light melatonin onsets (DLMOs) averaged across participants were not different for the ASD and TD participants. Average participant scores indicated aspects of poor sleep hygiene in both groups. Insomnia in ASD is multifactorial and not solely related to physiological factors.

Specificity of the combined dexamethasone suppression and TRH/TSH tests in melancholia.

Subjects for this study were 61 acute psychiatric inpatients. Forty two (42) qualified for a RDC diagnosis of Major Depressive Disorder (MDD) and 19 for other disorders. After a 7-10 days drug withdrawal period patients were subjected to the dexamethasone suppression and TRH/TSH tests. TSH was measured using a RIA. Cortisol was measured using a CPB technique. Eighteen (18) of the 42 MDD patients and 1 of the 19 others had an abnormal DST (sensitivity 43%, specificity 94%). Twenty two (22) depressed patients and 4 others had a blunted TSH response (sensitivity 52%, specificity 79%). Thirteen (13) depressives and none of the others had abnormal responses to both tests (sensitivity 31%, specificity 100%). DST nonsuppression alone and blunted TSH response alone were not a function of severity of illness, sex, age of onset, family history or RDC subtype. The 13 MDD patients with the combined neuroendocrine abnormality were more severely depressed, had longer episodes of illness, were older and had a later age of onset of their first episode. Our results add support to the suggestion that serial neuroendocrine challenge studies might be of particular relevance and significance in the diagnosis and management of elderly psychotic depressed patients.