Spontaneous remission of pendulum swinging thyroid disease in Down syndrome.

Summary: Rare patients who have both thyroid-stimulating hormone (TSH) receptor-stimulating and -blocking antibodies can develop 'pendulum swinging' thyroid dysfunction. A 9-year-old girl with Down syndrome was treated with carbimazole for Graves' disease. After 2 years of treatment, she became profoundly biochemically hypothyroid, and this persisted after carbimazole was discontinued.

Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.Global developmental delay is a common presentation to general paediatric and community paediatric clinics.

School-based management of type 1 diabetes in the Republic of Ireland: a cross-sectional mixed-methods analysis.

Background: Qualitative research regarding the experience of diabetes self-care management in schools is underrepresented in published literature. In addition, there are methodologic limitations in some of the existing studies.

Aims: To investigate experiences of school-based diabetes self-care management in children and adolescents with type 1 diabetes.

Prepubertal onset of type 2 diabetes in Shashi-Pena syndrome due to ASXL2 mutation.

Type 2 diabetes remains rare in the pediatric population and the majority of cases occur during puberty. A combination of genetic and environmental factors leads to the development of insulin resistance and β-cell failure. An increased prevalence is recognized in a number of rare genetic disorders such as Alström and Bardet-Biedl syndromes.

Adolescent onset of autoimmune polyglandular syndrome type 2.

An adolescent female was evaluated for fatigue, anorexia and unintentional weight loss of 7 kg. Initial investigations revealed subclinical autoimmune thyroid dysfunction, which progressed to overt hypothyroidism necessitating thyroxine replacement. She had entered early puberty, but this did not appear to be progressing.

Publication of abstracts presented at the Irish Paediatric Association conference.

Background: The proportion of abstracts presented at medical conferences that are subsequently published is a potentially useful surrogate for the quality of the material presented. The mean publication percentage for paediatric conference abstracts reported in the literature is 39%. The publication of abstracts presented at the Irish Paediatric Association's (IPA) annual conference have not previously been explored.

Donor human milk use in neonatal units: practice and opinions in the Republic of Ireland.

Background: Over the past decade, where mother's own milk (MOM) is unavailable, the use of donor human milk has become increasingly common in preterm and very low birth weight (VLBW) neonates. Limited literature exists regarding donor human milk practices in neonatal units.

Aims: To examine practices and opinions regarding use of donor human milk in neonatal units in the Republic of Ireland.

Standardised mortality is increased three-fold in a population-based sample of children and adolescents with type 1 diabetes.

There are no type 1 diabetes (T1DM) mortality data on Australian children and limited contemporary data on their international counterparts. Fatalities in children and adolescents (1-17 yr) with T1DM were identified from the Western Australia Children's Diabetes Database between 1987-2011. Seventeen thousand four hundred and fifty-three patient-years of diabetes data were analysed and 13 deaths were confirmed (six male).

Cholesterol screening in an at-risk pediatric population.

Elevation of low-density lipoprotein (LDL) cholesterol is a recognized risk factor for premature atherosclerosis and such elevations have their antecedents in the pediatric population. This study evaluated the frequency of elevated LDL cholesterol in children and adolescents (8-18 years) in whom one parent had a history of premature ischemic heart disease (<55 years). Patients had a fasting lipid profile performed and results were classified as normal, borderline/high, or high in accordance with the American Academy of Pediatrics (AAP) guidelines.