1.
[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].
Carrascosa-Romero, MC, Suela, J, Alfaro-Ponce, B, Cepillo-Boluda, AJ
Revista de neurologia. 2012;(4):241-8
Abstract
X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders. The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possible contribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.
2.
Sleep problems in the child with attention-deficit hyperactivity disorder: defining aetiology and appropriate treatments.
Weiss, MD, Salpekar, J
CNS drugs. 2010;(10):811-28
Abstract
An estimated 25-50% of children and adolescents with attention-deficit hyperactivity disorder (ADHD) experience problems with sleep. The most common sleep problems reported in children with ADHD include delayed sleep onset, sleep or bedtime resistance, prolonged tiredness upon waking and daytime sleepiness. Higher incidences of sleep disorders such as restless legs syndrome, periodic limb movement disorder and sleep-disordered breathing have been reported in paediatric ADHD populations compared with control populations. In some cases, medications for ADHD and/or co-morbid disorders may also contribute to sleep disturbances. Assessment tools, such as parent-child questionnaires and sleep diaries, can help clinicians evaluate sleep disturbances. Sleep problems may potentially exacerbate ADHD symptoms, and interventions targeted at ensuring adequate sleep (including behavioural, dietary, specific pharmacological agents for treatment-induced insomnia, and melatonin) could in turn potentially attenuate symptoms associated with ADHD, such as irritability. Whether metabolic or neurological pathways common to both sleep and ADHD may be disrupted, and whether targeting treatments to these pathways may simultaneously improve both ADHD and sleep symptoms, needs further elucidation.