Hurried Child Syndrome - A Review

Hurried child syndrome is a collection of stress-related behaviours that occur when a child's parents expect him or her to perform well beyond his or her mental, social, or emotional capacity. In essence, parents overbook their children's schedules, drive them hard for academic achievement, and expect them to act and respond like miniature adults. Other factors include the present state of trade. Many who sell to children these days realise that their parents no longer tell them what to eat, wear, or watch. This reality is being exploited by the consumerist economy, which is having an effect on children. Statistics on the hurried child syndrome include the following: According to recent research on the impact of hurried child syndrome, • There has been a 50% rise in childhood obesity over the last 20 years, • A tripling in suicide and murder rates over the last 20 years, and • About 15-20% of young children are "flunking" kindergarten. • Millions of children are medicated in order to make them more 'controllable' at home and in school. According to recent statistics, 70% of teenage girls will not be virgins by the time they reach adulthood, and 40% of those who are sexually active will become pregnant. Addiction to drugs and alcohol is now a leading cause of death among adolescents, but suicide is also on the rise. Every year, 5,000 adolescents commit suicide.

Erosive Tooth Wear, Presence of Parafunctional Habits and Tooth Injuries–Occurrence in a Group of Children and Adolescents Exposed to Domestic Violence

Objectives: To compare the prevalence of parafunctional habits, erosive tooth wear and occurrence of tooth injuries among children being under the care of Social Welfare Centre and children treated in the Department of Children’s Dentistry of the Medical University of Warsaw. Study design: The study contains environmental and medical interviews, record-based analysis and clinical examination. Parafunctional habits were rated on the base of dental interviews and clinical examinations. The occlusal surfaces were evaluated by visual examination using modified tooth wear index (TWI). Tooth injuries were reported from a medical interview labeled using Andreasen classification. The consent of the bioethics committee and guardians of children participated in the study was obtained. Results: The study involved 782 patients, including 404 children from dysfunctional families (average age 11,4 ± 3,7) and 378 from ordinary families-control group (8,53 ± 3,92). In the study group we observed higher prevalence of erosive tooth wear (44,66% vs 18,02% p=0,000), dental trauma (9,4% vs 3,44% p=0,001) and a presence of parafunctional habits (67,8% vs 20,4 % p=0,000). Conclusion: The occurrence of parafunctional habits, erosive tooth wear and tooth injuries may be an indicator of domestic violence and a component of maltreated child syndrome.

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

We report a case of a 1-year and 2-month-old girl with clinical features consistent with congenital hemidysplasia with ichthyosis and limb defects syndrome. Sterol analysis from skin flakes revealed increased levels of a mono 4-alpha methyl sterol also seen in plasma as well as the presence of 4-alpha-carboxy-4-methyl-cholest-8(9)-en-3beta-ol and several keto-sterols, which are usually below the limit of detection. This sterol pattern is consistent with abnormal function of the 4-alpha-methylsterol-4-demethylase complex. NSDHL gene testing revealed the presence of a variant of uncertain significance, c.130G>A (p.Gly44Ser). This missense mutation currently is not included in population databases (ExAC no frequency) and has not been reported in individuals with an NSDHL-related condition. Parental studies showed that neither parent carries the NSDHL variant. On this basis, this variant has been reclassified as likely pathogenic. Symptomatic treatment with keratolytic agents, emollients and ketoconazole was initiated.

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi

Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The NSDHL gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. All exons of the NSDHL candidate gene were amplified by PCR and analyzed by Sanger sequencing. A heterozygous frameshift variant, c.718_722delGAACA, was identified in the affected dog. In lesional skin, the vast majority of NSDHL transcripts lacked the five deleted bases. The variant is predicted to produce a premature stop codon truncating 34% of the encoded protein, p.Glu240Profs*17. The mutant allele was absent from 22 additionally genotyped Chihuahuas, as well as from 647 control dogs of diverse breeds and eight wolves. The available experimental data together with current knowledge about NSDHL variants and their functional impact in humans, dogs, and other species prompted us to classify this variant as pathogenic according to the ACMG guidelines that were previously established for human sequence variants. Therefore, we propose the c.718_722delGAACA variant as causative variant for the observed skin lesions in this dog.