Connecting the Dots: An Ecological Lens to Preventive Measures for Adverse Childhood Experiences.

Adversity in early childhood may have a profound impact on physical and mental health as well as general well-being later in life. Despite increasing research evidence on the lifelong impact of adverse experiences, one of the key questions that motivated this research was how to translate this knowledge into preventive measures. This article presents data from an exploratory study aimed to explore strategies and effective practices to prevent adverse experiences in early childhood.

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

Importance: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study.

Objective: To perform chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in a heterogeneous group of children with ASD to determine the molecular diagnostic yield of these tests in a sample typical of a developmental pediatric clinic.

Design, Setting, And Participants: The sample consisted of 258 consecutively ascertained unrelated children with ASD who underwent detailed assessments to define morphology scores based on the presence of major congenital abnormalities and minor physical anomalies.

Canadian guidelines for the evidence-based treatment of tic disorders: pharmacotherapy.

This article seeks to provide the practising clinician with guidance on the pharmacological management of tic disorders in children and adults. We performed a systematic review of the literature on the treatment of tic disorders. A multi-institutional group of 14 experts in psychiatry, child psychiatry, neurology, pediatrics, and psychology engaged in a consensus meeting.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Background: Recurrent microdeletions and microduplications of approximately 555 kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited.

Structural variation of chromosomes in autism spectrum disorder.

Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotyping. With microarrays, we discovered 277 unbalanced CNVs in 44% of ASD families not present in 500 controls (and re-examined in another 1152 controls).

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Background: Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3.

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8.

A mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1-->12).

Newborn screening for sickle cell and other hemoglobinopathies: a Canadian pilot study.

We estimated incidence of HbS disease in Quebec. It is approximately 9 cases per 100,000 births (equivalent to the incidence of the hyperphenylalanemias). Accordingly, we performed a voluntary pilot study in 9 self-identified ethnic groups; 3528 families were counselled about the relevance of newborn screening for hemoglobinopathies; and 2779 cord blood samples were collected (participation rate, 78.

Speech processing studies using an acoustic model of a multiple-channel cochlear implant.

The speech perception of two multiple-channel cochlear implant patients was compared with that of three normally hearing listeners using an acoustic model of the implant for 22 different speech tests. The tests used included a minimal auditory capabilities battery, both closed-set and open-set word and sentence tests, speech tracking and a 12-consonant confusion study using nonsense syllables. The acoustic model represented electrical current pulses by bursts of noise and the effects of different electrodes were represented by using bandpass filters with different center frequencies.

Glare disability in eyes with intraocular lenses.

For 32 eyes tested for glare disability after undergoing extracapsular cataract extraction with implantation of posterior chamber intraocular lenses, the mean contrast threshold in the presence of the glare source was 23% for undilated pupils and 31% with dilation. A regression analysis of glare scores as a function of the amount of posterior capsule opacification showed a significant (P less than .00001) association between the two.

Clinical trial of a multiple-channel cochlear prosthesis. An initial study in four patients with profound total hearing loss.

The clinical trial of a multiple-channel cochlear prosthesis was undertaken in four patients with postlingual deafness and profound total hearing loss. The results of open-set speech tests confirmed that, using electrical stimulation alone, one patient could have a meaningful conversation without resorting to lipreading (for example, this patient uses the prosthesis to converse with her husband on the telephone). The results of closed-set speech tests also suggested that a multiple-channel stimulator is more effective than a single-channel one in conveying speech information.

Bilateral intraocular lens implantation.

A study of 1796 consecutive cataract patients in a posterior chamber intraocular lens implant (IOL) series revealed 373 patients (20.8%) who had bilateral IOLs. Visual acuity was 20/40 or better in 87% of first eyes operated and 90% in second eyes.

A fluorescein angiographic study of cystoid macular edema.

We performed a prospective fluorescein angiographic study on 66 patients who had undergone extracapsular cataract extractions with implantation of a Shearing posterior chamber intraocular lens. A primary posterior capsulotomy was performed in every case. The eyes were studied 11 to 23 months postoperatively.

Internal proteins of influenza virus: 35S-methionine peptide maps as genetic markers.

Methods are described for the preparation in vivo of 35S-methionine-labelled influenza viruses, the purifiction of the nucleoprotein (NP) and matrix (M) proteins and the separation of peptides obtained by protease digestion by two-dimensional thin-layer chromatography. The maps of the M proteins of A/Okuda/57(H2N2) and A/Finland/4/74(H3N2) were very similar overall but differed in three peptides. Hence they could be clearly distinguished.