Impairments in communication and social interaction in children with neurofibromatosis type 1: Characteristics and role of ADHD and language delay.

BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem neurocutaneous disorder with increased risk of tumor formation and higher incidence of autism spectrum disorder (ASD) than the general population. The aim of the study was to assess the presence of ASD symptoms in young children with NF1 and to examine their potential association with attention deficit hyperactivity disorder (ADHD) and speech delay. METHODS: The cohort included 30 patients with NF1 attending the multidisciplinary NF1 clinic of a tertiary pediatric medical center from September 2015 through September 2016. The parents/caregivers completed the Social Communication Questionnaire (SCQ) and the Vineland Adaptive Behavior Scales (VABS II). RESULTS: Sixteen patients (53%) had a previous diagnosis of ADHD. There was a positive association between the presence of ADHD and a low score on the VABS II interpersonal relationships subscale of the Socialization domain. Language delay, documented in 12 children (40%), also correlated with a low interpersonal relationships score. CONCLUSIONS: ADHD appears to be more a marker than an actual independent risk factor of ASD in NF1. The early evaluation of children with NF1 for interpersonal communication problems and ASD, especially those with a speech delay or ADHD, will alert clinicians to initiate appropriate and timely treatment.

Oral betamethasone versus intramuscular dexamethasone for the treatment of mild to moderate viral croup: a prospective, randomized trial.

OBJECTIVE: Intramuscular dexamethasone is an effective, but painful, treatment for croup. The effectiveness of betamethasone, an oral, palatable, and equally potent glucocorticoid has not been studied. The purpose of this study was to compare the effectiveness of a single oral dose of betamethasone with intramuscular dexamethasone in the outpatient treatment of mild to moderate croup. METHODS: Children aged 6 months to 6 years presenting to a tertiary care pediatric emergency department (ED) with a modified Westley croup score of 0 to 11 were randomized to receive either 0.6 mg/kg IM dexamethasone or 0.4 mg/kg PO betamethasone. Croup score, heart rate, respiratory rate, pulse oximetry, and need for supplemental treatments were recorded at study entry and at 1, 2, and 4 hours after treatment. Follow-up data were collected by daily telephone follow-up on persistence of symptoms and the need for additional treatment or physician visits up to 7 days after the ED visit. RESULTS: Each study group contained 26 patients. Despite randomization, the mean baseline croup score was higher in the dexamethasone group (3.6 +/- 2.6 vs. 2.0 +/- 2.4, P = 0.03). Patients in both groups showed a significant reduction in the croup score after treatment, and there were no significant differences between croup scores at 4 hours (P = 0.18). Similarly, there were no differences between groups in the hospital admission rate, time to resolution of symptoms, need for additional treatments, or number of return ED visits. CONCLUSION: There is no difference between oral betamethasone and intramuscular dexamethasonein the management of mild to moderate viral croup. It is palatable and does not require a nurse for administration, making it a good alternative for ambulatory management.

Selective mutism and abnormal electroencephalography (EEG) tracings.

Epileptic discharges are not considered a part of the clinical picture of selective mutism, and electroencephalography is generally not recommended in its work-up. This report describes 6 children with selective mutism who were found to have a history of epilepsy and abnormal interictal or subclinical electroencephalography recordings. Two of them had benign epilepsy of childhood with centro-temporal spikes. The mutism was not related in time to the presence of active seizures. While seizures could be controlled in all children by medications, the mutism resolved only in 1. Although the discharges could be coincidental, they might represent a co-morbidity of selective mutism or even play a role in its pathogenesis. Selective mutism should be listed among the psychiatric disorders that may be associated with electroencephalographic abnormalities. It can probably be regarded as a symptom of a more complicated organic brain disorder.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

The neuronal ceroid lipofuscinoses are a group of dominant neurodegenerative, progressive, and fatal disorders characterized clinically by myoclonic epilepsy, in variable association with dementia, ataxia, and visual loss. Neuronal ceroid lipofuscinoses were classified into several phenotypes according to their age of onset: infantile, late infantile, juvenile, and adult. A specific phenotype was named "northern epilepsy," and its onset of signs occurs between ages 5-10 years. Deficiencies in the lysosomal activity of two specific enzymes were found in several types of neuronal ceroid lipofuscinosis: palmitoyl-protein thioesterase 1, encoded by the CLN1 gene, and tripeptidyl-peptidase 1, encoded by the CLN2 gene. Several mutations in CLN2 were described previously. We describe a novel mutation in two siblings of Israeli-Arab origin, with a clinical picture compatible with late infantile neuronal ceroid lipofuscinosis. Both siblings were found to be homozygous for a deletion of a C nucleotide at position 775 in exon 7 of the CLN2 gene. These findings have implications for the worldwide epidemiology of neuronal ceroid lipofuscinosis.