Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.

Sex chromosome trisomies (SCT), including Klinefelter syndrome/XXY, Trisomy X, and XYY syndrome, occur in 1 of every 500 births. The past decades of research have resulted in a broadening of known associated medical comorbidities as well as advances in psychological research. This review summarizes what is known about early neurodevelopmental, behavioral, and medical manifestations in young children with SCT. We focus on recent research and unanswered questions related to the risk for neurodevelopmental disorders that commonly present in the first years of life and discuss the medical and endocrine manifestations of SCT at this young age. The increasing rate of prenatal SCT diagnoses provides the opportunity to address gaps in the existing literature in a new birth cohort, leading to development of the eXtraordinarY Babies Study. This study aims to better describe and compare the natural history of SCT conditions, identify predictors of positive and negative outcomes in SCT, evaluate developmental and autism screening measures commonly used in primary care practices for the SCT population, and build a rich data set linked to a bank of biological samples for future study. Results from this study and ongoing international research efforts will inform evidence-based care and improve health and neurodevelopmental outcomes.

A descriptive analysis of language and speech skills in 4- to 5-yr-old children with hearing loss.

OBJECTIVE: Early intervention through hearing aids (HAs) and cochlear implants (CIs) aims to reduce the negative effects of childhood hearing loss and to promote optimal communication development over time. The primary goal of this study was to examine the communication outcomes of children with CIs and children with HAs at age 4 to 5 yrs and to consider their spoken language skills relative to a group of typically developing hearing peers. DESIGN: In this multicenter observational study, communication results were obtained for a total of 88 children at age 4 to 5 yrs. Participants were recruited from three clinical programs in two cities in the province of Ontario, Canada. This study was undertaken shortly after the introduction of a new provincial population screening initiative and included both children who were screened and not screened for hearing loss. The study sample comprised 51 children with sensorineural hearing loss and 37 children with normal hearing. Of the 51 children with hearing loss, 26 used CIs and 25 used HAs. The degree of hearing loss ranged from mild to profound. All children were enrolled in rehabilitation programs focused on oral language development. Children's language skills were assessed with an extensive battery of child- and parent-administered speech and language measures. RESULTS: Assessment of language skills showed no significant differences between the children with severe to profound hearing loss using CIs and children with varying degrees of hearing loss using HAs. However, children with HAs showed better articulation skills. Overall, both groups of children obtained scores on communication measures that were lower than their hearing peers. The number of children with hearing loss who obtained spoken speech-language scores within 1 SD of normative populations ranged from 65 to 86% depending on the test measure. Children with average hearing loss of 70 dB HL or better generally obtained scores on all measures in line with those of age-matched norms while scores were quite variable for children with severe and profound hearing loss. Factors influencing performance in children with hearing loss included degree of hearing loss (pure-tone average) and parent education. Age at diagnosis of hearing loss was not a significant predictor of speech-language outcomes in this study. CONCLUSIONS: Results indicated that overall, children with all degrees of hearing loss who were fit with hearing technology and who received auditory-based rehabilitation services during the preschool years demonstrated the potential to develop spoken language communication skills. As a group, children with CIs and children with HAs did not differ significantly on language abilities although there were differences in articulation skills. Their performance at age 4 to 5 yrs was delayed compared with a group of hearing peers. The findings reinforce the need for research to identify factors that are likely to lead to age-appropriate communication skills for preschool-age children with hearing loss.

The early manifestations of bipolar disorder: a longitudinal prospective study of the offspring of bipolar parents.

OBJECTIVE: A major aim of this longitudinal high-risk study is to identify reliable early indicators of emerging bipolar disorder (BD) among offspring from well-characterized parents. METHODS: High-risk offspring were recruited from families in which one parent had BD diagnosed on the basis of the Schedule for Affective Disorders and Schizophrenia - Lifetime version (SADS-L) interviews and DSM-IV diagnostic criteria and the other parent was well. Bipolar parents were further subdivided on the basis of response or non-response to long-term lithium. A comparison group of offspring was recruited from well parents diagnosed on the basis of either SADS-L interviews or the family history method. All consenting offspring from high-risk and control families were assessed longitudinally with the Schedule for Affective Disorders and Schizophrenia for School-aged Children - Present and Lifetime version (KSADS-PL) interviews and DSM-IV diagnoses were made on a blind consensus review. The offspring were reassessed on average annually, as well as at any time symptoms developed. RESULTS: Antecedent conditions to BD in both high-risk groups included sleep and anxiety disorders, while attention-deficit hyperactivity disorder and pre-psychotic conditions were antecedents among the offspring of lithium non-responders only. Among those offspring developing BD, the index mood episode was almost always depressive. CONCLUSIONS: Despite a specific genetic risk, BD began with non-specific psychopathology and/or depressive disorders in a majority of offspring. Therefore, diagnosis based only on cross-sectional assessment of symptoms appears to be insufficient for the accurate early detection of emerging BD. Other parameters such as family history and associated antecedents should be taken into account.

Nocturnal sleep, daytime sleepiness, and napping among women with significant emotional/behavioral premenstrual symptoms.

The objective of this study is to examine daytime sleepiness and alertness and nap characteristics among women with significant emotional/behavioral premenstrual symptoms, and to determine their relationship with nocturnal sleep. Participants spent one night during the follicular phase and two nights during the late-luteal phase, one of which occurred after a 40 min opportunity to nap, sleeping in the laboratory. Subjective measures of sleepiness and alertness were completed during the afternoon of each recording. Setting took place at the sleep laboratory at the University of Ottawa. A total number of participants were 10 women with significant and nine women with minimal emotional/behavioral premenstrual symptoms (mean age 26 years). The results were compared with the follicular phase, both groups of women had less slow wave sleep and more stage 2 sleep at night, as well as a higher daytime and nocturnal mean and maximum temperature during the late-luteal phase. Women with significant symptoms were sleepier and less alert during the late-luteal phase and had a higher overall mean nocturnal temperature compared with women with minimal symptoms. No significant differences were found between the two groups on nap characteristics and nocturnal sleep characteristics. Results show that women with more severe premenstrual symptoms are sleepier during the late-luteal phase than women with minimal symptoms. The increased daytime sleepiness seems to be unrelated to nocturnal sleep or nap characteristics.