Novel mutations in two unrelated Italian patients with SSADH deficiency.

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the gene coding for succinic semialdehyde dehydrogenase (ALDH5A1). The abnormal levels of GHB detected in the brain and in all physiological fluids of SSADHD patients represent a diagnostic biochemical hallmark of the disease. Here we report on the clinical and molecular characterization of two unrelated Italian patients and the identification of two novel mutations: a 22 bp DNA duplication in exon 1, c.114_135dup, p.(C46AfsX97), and a non-sense mutation in exon 10, c.1429C > T, p.(Q477X). The two patients showed very different clinical phenotypes, coherent with their age. These findings enrich the characterization of SSADHD families and contribute to the knowledge on the progression of the disease.

Sleep-wake cycling in a neonate admitted to the NICU: a video-EEG case study during hypothermia treatment.

This retrospective case study describes the sleep-wake cycles of an infant in the neonatal intensive care unit. We analyzed video-electroencephalographic recording of the term infant monitored during treatment with therapeutic hypothermia for hypoxic-ischemic encephalopathy. The continuous video-electroencephalographic recording over a 4-day period also allowed us to describe the following dimensions of daily care in relation to the infant's sleep-wake states: (1) handling by professional and parent caregivers and (2) stress, pain, and analgesia. Physical contact constituted 17% to 36% of each 24-hour period. The infant's care was fragmented, with a mean of 3 to 4 physical contacts per hour. As a result, the structure of infant sleep was altered by the increased amount of awake and quiet sleep. The number of painful procedures ranged from 5 to 24 per day. Nurses were the main care providers. Parents had more contact after the infant was rewarmed. This case study suggests that neonatal intensive care unit infants are exposed to frequent handling and stress as well as altered sleep. The cumulative negative impact of frequent handling and sleep fragmentation may go unnoticed by caregivers focused on episodes of care. Continuous video-electroencephalographic monitoring is a useful tool for longitudinal evaluation of infant sleep and responses to caregiving in the neonatal intensive care unit.