Clinical management of individuals with Intellectual Disability: The outbreak of Covid-19 pandemic as experienced in a clinical and research center Research in Developmental Disabilities.

During the COVID-19 pandemic, the Oasi Research Institute of Troina (Italy) became an important hotbed for infection; in fact, 109 patients with different levels of Intellectual Disability (ID) tested positive for COVID-19. The procedures and interventions put in place at the Oasi Research Institute due to the COVID-19 pandemic are exhaustively reported in this paper. The description of the clinical procedures as well as remote/in person psychological support services provided to people with ID and their families are here divided into three different sections: Phase I (or Acute phase), Phase II (or Activity planning), and Phase III (or Activity consolidation). In each section, the main psycho-pathological characteristics of patients, the reactions of family members and the multidisciplinary interventions put in place are also described.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), spinocerebellar ataxia with epilepsy (SCAE) and Alpers syndrome. POLG1 mutations result in extremely heterogeneous phenotypes which often have overlapping clinical findings, making it difficult to categorize patients into syndromes, and genotype-phenotype correlations are still unclear. We describe a new family with a particular spectrum of clinical signs, that carried the c.752C>T mutation in exon 3 (T251I) and the c.1760C>T in exon 10 (P587L) in cis. These mutations were associated in the proband and in her brother with the new probably pathogenic mutation c.347C>A in exon 2 (P116Q). The proband presented a progressive cognitive impairment, mild myopathy, dilated cardiac right atrium and posterior white matter mild signal alteration, while her brother had migraine, mild myopathy, palpebral ptosis and posterior white matter mild signal alteration. Their mother and their sister carried the in cis T251I and the P587L mutations. The first presented neurosensorial hypoacusia, fatigue, heart block and a cerebral arteriovenous malformation nidus, while the latter had borderline intellectual functioning and signs of muscular involvement. Their father, with the P116Q mutation, had diabetes and myopathy. The complexity of the genotype-phenotype correlations associated with POLG1 mutations is reinforced in this work as evidenced by the presence of different clinic features in patients carrying the same mutations.

Use and tolerability of newer antipsychotics and antidepressants: a chart review in a paediatric setting.

OBJECTIVE: To analyse the prescribing pattern and the safety profile of different atypical antipsychotics and selective serotonin reuptake inhibitors (SSRIs) during the years 2002-2003 in paediatric setting. SETTING: Two Child Neurology and Psychiatry Divisions of Southern Italy (University of Messina and "Oasi Institute for Research on Mental Retardation and Brain Aging" of Troina). METHODS: A retrospective chart review of all children and adolescents starting an incident treatment with atypical antipsychotics or SSRIs was performed. Within the first 3 months of therapy, any potential adverse drug reaction (ADR) was identified and the clinical outcome of psychotropic drug treatment was assessed. MAIN OUTCOME MEASURE: Rate of ADR in the first 3 months of therapy with atypical antipsychotics and SSRIs in children and adolescents. RESULTS: On a total of 97 patients' charts being reviewed, 73 (75%) concerned atypical antipsychotics and 24 (25%) SSRIs. Risperidone (N=45, 62%) was the most frequently prescribed antipsychotic drug, followed by olanzapine (24, 32%). Overall, 50 (68%) antipsychotic users reported a total of 108 ADRs during the first 3 months of therapy, leading to drug discontinuation in 23 patients (31%). Among 24 users of SSRI, 12 (50%) received paroxetine, 6 (25%) sertraline, 5 (21%) citalopram and 1 (4%) fluoxetine. Only paroxetine users (21%) reported at least one ADR, however, none of SSRI users withdrew drug treatment within first 3 months. CONCLUSIONS: ADRs occurred frequently during first 3 months of treatment with atypical antipsychotics and, to a lesser extent, with SSRIs in children and adolescents. Further investigations are urgently needed to better define the benefit/risk ratio of psychotropic medications in paediatric setting.