Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches.

The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.

Electrophysiological correlates of action observation treatment in children with cerebral palsy: A pilot study.

Action Observation Treatment (AOT) has been shown to be effective in the functional recovery of several clinical populations. However, little is known about the neural underpinnings of the clinical efficacy of AOT in children with Cerebral Palsy (CP). Using electroencephalography (EEG), we recorded µ rhythm desynchronization as an index of sensorimotor cortex modulation during a passive action observation task before and after AOT.

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

Few cases of mosaicism involving a normal cell line and an unbalanced autosomal translocation have been reported so far. No cases of partial trisomy 13 and partial monosomy 8 mosaicism have been published. The authors report a new patient with partial trisomy 13 and partial monosomy 8 mosaicism due to an unbalanced translocation (13/8).

Chorea mollis: long-term follow-up of an infantile case.

We describe the long-term follow-up of a patient affected by chorea mollis, a rare variant of Sydenham's chorea of which there are very few reports in the literature. Our patient, a previously healthy 8-year-old boy developed progressive clumsiness, gait disturbance, generalised hypotonia and muscle weakness, choreic movements of the limbs and behavioural disturbances. Following the diagnosis of chorea mollis, the patient received prophylaxis (monthly injections of benzathine benzyl penicillin).

A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample.

The authors developed a questionnaire in Italian for investigating sleep problems in infants and toddlers. Applying the questionnaire, they conducted an exploratory investigation into the sleep behaviour of a sample of normal children during their first three years of life in order to gather preliminary data regarding the ease of use of the instrument. The questionnaire and the results of its first application (in an Italian sample of 50 healthy children aged 10-39 months) are presented.