The Trichotillomania Impact Project in Young Children (TIP-YC): Clinical Characteristics,Comorbidity, Functional Impairment and Treatment Utilization

The aim was to investigate clinical characteristics of young children with a hair pulling problem. Parents/caregivers of young children (0–10 years old) with a hair pulling problem (N = 110) completed an online survey. The majority reported that their child experienced mild to moderate impairment/distress due to hair pulling, and overall clinical characteristics were similar to adult samples, although some differences were noted (e.g., less awareness of pulling). We also compared preschool-aged and school-aged children within the sample. Symptom severity, pleasure during pulling and gender ratio remained stable across the age groups. The preschool-aged children demonstrated less impairment/distress, comorbidity, and treatment seeking; pulled from fewer body areas; and were less likely to be aware of the act or experience tension prior to pulling. In conclusion, clinical characteristics of childhood hair pulling are largely similar to adult/adolescent hair pulling problems, but there are some notable differences, particularly among pre-school aged children.     

A systematic review and analysis of long-term outcomes in attention deficit hyperactivity disorder: effects of treatment and non-treatment

ABSTRACT: BACKGROUND: In childhood, attention deficit/hyperactivity disorder (ADHD) is characterized by age-inappropriate levels of inattentiveness/disorganization, hyperactivity/impulsiveness, or a combination thereof. Although the criteria for ADHD are well defined, the long-term consequences in adults and children need to be more comprehensively understood and quantified. We conducted a systematic review evaluating the long-term outcomes (defined as 2 years or more) of ADHD with the goal of identifying long-term outcomes and the impact that any treatment (pharmacological, non-pharmacological, or multimodal) has on ADHD long-term outcomes. METHODS: Studies were identified using predefined search criteria and 12 databases. Studies included were peer-reviewed, primary studies of ADHD longterm outcomes published between January 1980 to December 2010. Inclusion was agreed on by two independent researchers on review of abstracts or full text. Published statistical comparison of outcome results were summarized as poorer than, similar to, or improved versus comparators, and quantified as percentage comparisons of these categories. RESULTS: Outcomes from 351 studies were grouped into 9 major categories: academic, antisocial behavior, driving, non-medicinal drug use/addictive behavior, obesity, occupation, services use, self-esteem, and social function outcomes. The following broad trends emerged: (1) without treatment, people with ADHD had poorer long-term outcomes in all categories compared with people without ADHD, and (2) treatment for ADHD improved long-term outcomes compared with untreated ADHD, although not usually to normal levels. Only English-language papers were searched and databases may have omitted relevant studies. CONCLUSIONS: This systematic review provides a synthesis of studies of ADHD long-term outcomes. Current treatments may reduce the negative impact that untreated ADHD has on life functioning, but does not usually 'normalize' the recipients.     

Assessing Children's Mealtime Problems With the Mealtime Behavior Questionnaire

A caregiver questionnaire that assesses mealtime problems in children aged 2 to 6 years old was developed. Community caregivers (n = 712) completed the Mealtime Behavior Questionnaire (MBQ) and measures of child behavior and family mealtime behaviors and environment. Exploratory and confirmatory factor analyses revealed and validated the MBQ's 4 subscales (food refusal/avoidance; food manipulation; mealtime aggression/distress; and choking/, gagging/vomiting). Mealtime problems occurred from “sometimes” to “always” for 1% to 61% of the sample. The MBQ demonstrated excellent to fair internal consistencies, and preliminary evidence for validity was found.     

MR‐detectable metabolic consequences of mitogen‐activated protein kinase kinase (MEK) inhibition

Metabolic reprogramming is increasingly being viewed as a hallmark of cancer. Accordingly, metabolic readouts can serve as biomarkers of response to therapy. The goal of this study was to investigate some of the MRS‐detectable metabolic consequences of mitogen‐activated protein kinase kinase (MEK) inhibition. We investigated PC3 prostate cancer, MCF‐7 breast cancer and A375 melanoma cells, and determined that, consistent with previous studies, MRS‐detectable levels of phosphocholine decreased significantly in all cell lines (to 63%, 50% and 18% of the control, respectively) following MEK inhibition with U0126. This effect was mediated by a decrease in the expression of choline kinase α, the enzyme that catalyzes the phosphorylation of choline. In contrast, the impact of MEK inhibition on glycolysis was cell line dependent. A375 cells, which express mutant BRAF, demonstrated significant decreases in glucose uptake (to 36% of control) and lactate production (to 42% of control) in line with positron emission tomography data. In contrast, in PC3 and MCF‐7 cells, increases in glucose uptake (to 198% and 192% of control, respectively) and lactate production (to 177% and 212% of control, respectively) were observed, in line with a previous hyperpolarized ¹³C MRS study. This effect is probably mediated by the activation of the phosphoinositide 3‐kinase pathway and AMP‐activated protein kinase. Our findings demonstrate the value of translatable non‐invasive MRS methods for the provision of information on cellular metabolism as an indication of the activation of potential feedback loops following MEK inhibition. Copyright © 2014 John Wiley & Sons, Ltd.     

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.