Child protection concern in patients during the COVID-19 lockdown.

During the COVID-19 lockdown, social isolation from school closures and home visitation restrictions compounded known risk factors for child maltreatment. The aim of our study was to determine the incidence and types of child protection concern (CPC) among inpatients during the COVID-19 lockdown compared to the matched timeframe in 2019. We retrospectively reviewed the CPC assessments performed at Children's Health Ireland at Crumlin and Tallaght from March 13 to August 31, 2020, and the same period in 2019. Eighty-six versus 163 inpatients were assessed for CPC in 2020 versus 2019. Higher proportions of physical abuse concerns (52.3% versus 11% (p < 0.001)) and emotional abuse concerns (7.0% versus 1.2% (p = 0.015)) were observed in 2020. Case complexity, defined as involving two or more types of CPC, increased with 48.8% in 2020 versus 13.5% in 2019 (p < 0.001). In conclusion, there were fewer assessments for CPC during the 2020 lockdown. However, the complexity of the CPC cases was significantly increased in 2020.

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria.

We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative. Furthermore the siblings were tall and did not have the typical phenotype of nystagmus, photophobia, obesity or hearing loss and so the AS diagnosis was removed. We then sought to identify the causative gene in this family using whole exome sequencing. Unexpectedly, the exome analysis identified novel compound heterozygous ALMS1 mutations in exon 5 (c.777delT:p.D260fs*26) and exon 20 (c.12145_12146insC:p.S4049fs*36) that segregated with the phenotype. Although the siblings show some clinical overlap with AS, their phenotype is not classical. It is plausible that their atypical presentation may be due to the location of the ALMS1 mutations outside the usual mutational hotspots. Our findings show how atypical cases of AS may be missed under the current diagnostic guidelines and support consideration of complete ALMS1 sequencing in children with two or more features, even if all of the core clinical features of AS are not present.

Autism in a recently arrived immigrant population.

UNLABELLED: This study aims to establish whether children of an immigrant maternal population presented with a higher rate of autism than the indigenous population and to explore their presentation with regard to severity of symptoms, demographics and ethnicity. It is a retrospective case note analysis of 366 children who presented to the paediatric developmental service in the Adelaide and Meath incorporating the National Children's Hospital, Tallaght, Ireland between 2007 and 2009. During the study period, 366 children presented. Fifty-eight children (16 %) had mothers who were born in Africa and 53 (14 %) were born to mothers originating from a wider variety of countries. Two hundred and forty-eight children (68 %) had mothers born in Ireland. Maternal origin was not identified for seven children (2 %). An autistic spectrum disorder (ASD) was diagnosed in 131 children and speech and language delay in 132. Of the children with an ASD diagnosis, a higher proportion of the African cohort 13/18 (72.2 %) presented with moderate/severe cognitive disability compared to the Irish group 9/55(16.3 %), and the children in the African cohort showed a higher heritability with 36.9 % having a positive family history of autism reported compared to 26.3 % of the Irish cohort with an ASD diagnosis. CONCLUSION: This study highlights an observation of increased rates of ASD among a migrant population derived particularly from children born to mothers originating in Sub-Saharan Africa. This cohort is more severely affected. Further validation in an epidemiological sample is warranted, which if replicated, may help to identify possible aetiological risk factors.