Decreased Phosphorylated ERK 1/2 in Individuals with Autism

Autism spectrum disorders (ASDs) are complex, highly heritable neurodevelopmental disorders affecting ∼1 in 60-100 children. The extracellular signal-regulated kinases, ERK1 and ERK2, are central elements of one of the most prominent intracellular signaling cascades, the mitogen activated protein kinase (MAPK) pathway. They are genetically linked to ASDs and other syndromes typified by intellectual disability. In this study, we measured the concentration of phosphorylated (activated) ERK 1 and 2. We present evidence that ERK is decreased in individuals with autism, and that ERK levels are associated with decreased Epidermal Growth Factor Receptor (EGFR).

Play as a Source of Psychological Well-Being for Hospitalized Children: Study Review

This work contains a narrative review of the effects of different types of play in the well-being of hospitalized children. For this purpose, the literature highlighting the evidence that supports the use of different types of play to improve children's hospitalization experience was analyzed. These types of play are medical games, playing with dolls, puppets, or marionettes, playing with pets, and digital or video-games. All of them can improve children's experience of hospitalization. Despite everything, children can play a lot of things in the hospital, and recreational resources make important contributions to hospitalized children's well-being. Play is children's right, also in the hospital, and is a particularly important resource to improve the care that pediatric patients receive in health institutions.

Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia

Classic lissencephaly is a rare and serious brain malformation classified in type 1 and type 2. Type 1 is associated with mutations in the human LIS1 gene, which are numerous and constantly discovered. We present a case of isolated fetal ventriculomegaly with subsequent and unexpected diagnosis of neonatal lissencephaly. The clinical manifestation does not match the genotype, often associated with cerebellar hypoplasia.

Pschychosocial support for distressed parents of Pediatric cancer patients

Survival rates for childhood cancer diagnosed before the age of 18 years have improved due to aggressive multidisciplinary therapeutic approaches. Parents have been found to be psychologically affected by their child’s diagnosis, treatment, side-effects of the treatment and child’s health status. Though parental emotional difficulties, such as depression and anxiety, have been reported to decrease after cancer treatment, parents continue to experience chronic post-traumatic stress (PTS) for a long time after their child’s treatment. Parents may also report persistent feelings of loss, uncertainty, and anxiety about the recurrence of the disease or the emergence of late effects in their child. Such illness-specific distress of the parents should be assessed in order to fully understand their psychosocial functioning. Sensitizing health care professionals to the identification of this factor and its associated difficulties is essential for the implementation of efficient intervention strategies. General health of parents plays an important role in continuation of care for the sick child and the treatment follow up. Parental distress and PTS are associated with the emotional and behavioral functioning of children with cancer. There is a genuine need to offer programs of psychological attention to parents of children with cancer in order to reduce their emotional and cognitive psychopathology and to help them adopt adequate coping strategies.

Influence of Somesthesic Input on Subjective Visual Vertical in Dyslexic Children

Purpose: We explored the perception of subjective visual vertical (SVV) in dyslexic and non-dyslexic age, sex and QImatched.Method: The SVV was evaluated with a laser and with or without foam under the feet. We performed an analysis ofvariance. Post hoc comparisons were made with the Fisher’s least significant differences test (LSD).Results: Our results showed two significant effects for groups and for tilt condition: counterclockwise or clockwisedirection and a significant interaction between group, tilt and somesthesic condition: without and with foam underthe feet. More precisely, SVV response in the tilt counterclockwise condition with foam was found to be significantlyless accurate for the dyslexic group than for the non-dyslexic group. Also, SVV response in the tilt counterclockwisedirection was found to be significantly less accurate for both groups compared to clockwise direction. Moreover, inclockwise direction SVV process was found to be significantly less accurate in dyslexic than in non-dyslexic group.Conclusion: These results suggest that the somesthesic information from foot sole affect SVV perception; such poorSVV responses could be due to an immaturity for heteromodal sensory integration needed in SVV perception.

Urological Disturbances in Children with Cerebral Palsy : Short Review

Background: Cerebral palsy is the most common motor disability in childhood. Among the comorbidities associated with this condition are lower urinary tract symptoms and urinary tract infections. Objective: The present review is aimed to the general pediatrician to adequate fulfill his/her needs regarding a proper understanding of the urinary tract functioning of children with cerebral palsy and which urodynamical findings are expected. Conclusion: lower urinary tract dysfunction is associated with cerebral palsy and should be promptly recognized. Non-invasive methods, such as ultrasonography and uroflowmetry do not correlate with clinical complaints in these patients. Children with detrusor-sphincter dyssinergia are more prone to upper urinary tract deterioration in adulthood when not recognized and properly treated. The main objective of adequate treatment of these patients is to reduce morbidity and to improve quality of life of them as well as their families.

Environmental Pollution and Non-Perinatal Faulty Hormonal Imprinting: A Critical Review

The perinatal hormonal imprinting takes place perinatally, when the developing hormone receptors meet the hormones of the newborn and this suits the normal receptor-hormone connections for life. In this period the developmental window for imprinting is open and the receptors can be cheated by hormone-related exogeneous molecules, provoking faulty hormonal imprinting with lifelong consequences, as alteration of receptor binding capacity and hormone production, functional changes, altered sexual behavior, immunological alterations and inclination to or manifestation of diseases. However, there are other critical periods of life, when the window is open, as weaning, adolescence, regeneration in adults as well, as in continously dividing cells. The most sensitive non-perinatal critical period is the adolescence. In these periods hormone-like endocrine disruptors (e.g. bisphenol A, benzpyrene, pesticides and herbicides, soy isoflavones, medically used synthetic hormones etc) are provoking faulty hormonal imprinting with lifelong consequences. The hormonal imprinting is an epigenetic process, which is inherited to the progeny cells of the organism and to the offspring of the organism, by which it can chip in the evolution. The non-perinatal faulty hormonal imprinting is justified in animal experiments and seems to be likely in case of survivors of childhood cancer treatment. Similar to the faulty perinatal hormonal imprinting, the late (non-perinatal) faulty imprinting can participate in the provocation of later manifested diseases.

Isolated Congenital Alacrima in a Child with Autism Spectrum Disorder

Isolated congenital absence of lacrimal glands is a very rare condition in children, only few cases were reported so far. Its symptoms can be quite variable depending on the other associated factors like absence of accessary lacrimal glands and/or salivary glands. Children with isolated absence of lacrimal gland can have normal tear film but lack tear production upon emotional stimuli. Although, alacrima can be a part of other rare syndromes, isolated absence has never been reported in the literature in association with autism spectrum disorder. In this article we present a case of alacrima with autism spectrum disorder, never reported in the literature to our knowledge. With increasing recognition of autism spectrum disorder, it is important to report common and rare association of other clinical co-morbidities as this may influence the initial presentation posing diagnostic challenges to the diagnosticians. In this case the lack of tears with the emotional stimuli was considered exclusively caused by the lack of social-emotional reciprocity, which is one of the core symptoms of autism spectrum disorder.

Autism and its Obstetrical Causes

Autism spectrum disorder (ASD) is a developmental disorder characterized by abnormal social interaction and communication and manifested by repetitive behavior. Parents notice signs of autism in the first two or three years of their child’s life.

Incidence and Characteristics of Infants with Retinopathy of Prematurity in Croatia

PURPOSE: To study the incidence of retinopathy of prematurity (ROP) in a neonatal intensive care unit in Croatia and obtain information on risk factors associated with ROP. There have been limited studies on ROP in Croatia where the screening for ROP and its treatment is still insufficient and not introduced in many intensive care units. MATERIAL AND METHODS: This retrospective study included 247 premature infants admitted to the neonatal intensive care unit of University Hospital Split, over a 5-year period between January 2012, and December 2016. In this paper the relationship between clinical risk factors and the development of ROP was analyzed. RESULTS: The overall incidence for ROP was 23,9 % (59 infants), for Type 1 ROP was 9,3% (23 infants); for Type 2 ROP was 14,6% (36 infants). Median gestational age (GA) and birthweight (BW) were significantly lower among infants with ROP versus those without ROP (29: 23-34 vs. 31: 23-34,p<0,001 and 1,180:630-2,000 vs. 1485:590-2000, p<0,001 respectively). Multivariate analysis showed that only BW (p=0,029) and small for gestational age (SGA) (p=0,045) predicted the development of ROP. CONCLUSION: Birth weight and small for gestational age were the most significant risk factors for developing ROP. In comparison with studies from highly developed countries, infants with a much wider range of gestational age and birth weights are developing Type 1 ROP.