Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Background: Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes.

Effects of Methylphenidate on Default-Mode Network/Task-Positive Network Synchronization in Children With ADHD.

Objective: A failure of the anti-phase synchronization between default-mode (DMN) and task-positive networks (TPN) may be involved in a main manifestation of ADHD: moment-to-moment variability. The study investigated whereby methylphenidate may improve TPN/DMN synchronization in ADHD.

Method: Eleven drug-naive ADHD children and 11 typically developing (TD) children performed a flanker task during functional magnetic resonance imaging.

[Ethical issues involved in communicating to a parent of a child's disability].

Ethics are an ever-present concern in medicine, and never more so than when it comes to announcing a child's disability. The healthcare professional must adopt an appropriate and respectful attitude in order to ensure that information that will change several lives is properly understood.

[Living in respect of others in a healthcare institution].

Since Hippocrates, "first, do no harm" is one of the fundamental principles of healthcare which caregivers attempt to put into practice in all their encounters with others in need of care. Principles of justice, well-doing, autonomy and proportionality have helped to enrich the caregiver's reflection.

Clinical evaluation of attentional processes in children with benign childhood epilepsy with centrotemporal spikes (BCECTS).

The aim of this study was to identify the attentional processes specifically affected in children with benign childhood epilepsy with centrotemporal spikes (BCECTS). The impact of several factors - laterality of discharges, age-at-onset and duration of epilepsy, and medication - on these cognitive functions was also studied. A group of 29 children with BCECTS was evaluated using standardized tests performed in routine clinical practice and specifically designed to assess executive and attentional functions.

Use of the oculocardiac reflex to assess vagal reactivity during quiet sleep in neonates.

Arousal from sleep can be a protective response to life-threatening stimuli. Hence, faults within state-switching processes may lead to fatal events. To investigate the role of the nervous system during cardiac failure triggered by phasic, vagally mediated stimulation, we analysed autonomic and behavioural reactions in 50 premature neonates during quiet sleep (QS) -- a sleep state characterized by a preponderance of tonic, parasympathetic activity.

Autonomic responses to sighs in healthy infants and in victims of sudden infant death.

Objective: Sigh, defined as an isolated breath with an increased tidal volume, can be associated with abrupt changes in heart rate (HR) or blood oxygenation. Sigh may be followed by a central apnea. As impairment of autonomic control was postulated in future SIDS victims, we hypothesized that their autonomic responses to sighs were different from those of healthy control infants.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M).