Mental Delay Research Articles

Optimizing the diet of children with disabilities

Principles of nutrition for disabled children are very important. Russia’s specialized institutions and boarding schools for children with disabilities were monitored and proved to have no specific diet adapted for children with special needs (mental delay, emotional-volitional defects — autistic disorders). According to the World Health Organization (WHO), unbalanced diets along with lifestyle habits are the main risk factors for chronic diseases which can develop and accelerate disorders in intellectual and cognitive abilities. The study analyzed reference data in order to identify and summarize patterns in diets designed for children with special medical care needs. The review assessed works of foreign and domestic authors, as well as data obtained with SRC ‘Arktika,’ on nutrition status of children with disabilities under the north conditions. By meta-analysis, the authors made recommendations for optimizing the diet for children with disabilities.

Analysis of clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion

Objective: To investigate the clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion. Methods: The patients (n=10) with 16p11.2 microdeletion found in children with epilepsy treated in Beijing Children's Hospital Affiliated to Capital Medical University from January 2018 to January 2021 were collected. The clinical manifestations, gene variations and prognosis were analyzed retrospectively. Results: A total of 10 children's data were collected, including 5 male and 5 female. The onset age of epilepsy was 4.5 (4.1,5.0) months. Regarding the seizure types, 7 cases had focal seizures with secondary generalization, 2 cases had generalized seizures, and 1 case had tonic seizures and spasms. Nine cases had cluster seizure attacks and 3 cases had status epilepticus. Seven cases had focal or multifocal epileptiform discharges in interictal electroencephalogram (EEG), 3 cases had borderline or normal EEG. Brain magnetic resonance imaging showed polymicrogyria in 1 case, paraventricular leukomalacia in 1 case, delayed myelination of white matter in 3 cases, and no obvious abnormalities in the other 5 cases. The patients were followed up for 0.5-3.5 years, with 1-3 kinds of antiepileptic drugs taken orally. The case with polymicrogyria still had seizures, however the other 9 cases had seizures controlled. The age of the last seizure attack was 8 (6, 12) months. There were 6 cases with mental and motor developmental delay before epilepsy onset. During the follow-up, 7 cases were retarded to varying degrees, while 3 cases had normal development. Regarding the genetic detection methods, 7 cases underwent whole exome sequencing, 2 cases underwent whole genome copy number variation detection, and 1 case underwent whole genome sequencing. The length of the 16p11.2 deletion in 10 cases ranged from 525 to 951 kb, and all contained the PRRT2 gene intact. Six cases were de novo variants, 1 case was inherited from the mother who had a history of convulsions in early childhood, and the source of variant was not verified in 3 cases, none of whose parents had relevant phenotype. Conclusions: The epilepsy associated with 16p11.2 microdeletion is mainly induced by the heterozygous deletion of PRRT2 gene in this region, however the phenotype is usually severe, and often combined with developmental and epileptic encephalopathy. Detection of copy number variation should be emphasized in children whose etiology is considered genetic but second-generation sequencing result is negative.

IDF21-0574 Type 1 Diabetes onset and COVID-19 infection in a child with Sanjad Sakati Syndrome: a case from Kuwait

Background: Sanjad Sakati Syndrome (SSS) is an autosomal recessive multisystem disorder characterized by congenital hypoparathyroidism, prenatal and postnatal growth and mental delay, dysmorphic features, and hypocalcemia seizures. It has not been linked with autoimmune disorders such as Type 1 Diabetes (T1D). Viral infections may play a role in triggering the development of T1D. Contracting SARS-CoV-2 virus may induce an autoimmune response by damaging the pancreatic β cells and accelerate the onset of T1D. To the best of our knowledge, no case studies of SSS has been reported to develop T1D were reported. Aim: To present a child with SSS who was newly diagnosed with T1D and SARS-CoV-2 infection (COVID-19). Method: Data on the patient were extracted from the Childhood Onset Diabetes electronic Registry (CODeR) in Kuwait. Results: The child was diagnosed early in life with SSS by tubulin-specific chaperone E (TBCE) gene mutation. The child is under multidisciplinary care and managed by alphacalcidol treatment. In May 2021, she presented with a history of fever, cough, polyuria, polydipsia, and poor appetite which lasted for 6 days. On investigations, random blood sugar level was 22 mmol/l and HbA1c level was 10%. There was no evidence of diabetic ketoacidosis. Autoantibodies to glutamic acid decarboxylase (GAD) and thyroperoxidase antibodies (TPO) were positive, with normal thyroid function results. Serum insulin and c-peptide levels were low (0.93 miu/ml, 28 pmol/l respectively). Thus, T1D diagnosis was made, and insulin therapy was started. No family history of diabetes was reported. On admission, the child tested positive for SARS-CoV-2 PCR and had positive contacts with family members with COVID-19 infection. As per WHO COVID-19 infection severity criteria, the child’s condition was classified as mild. She was discharged home with no short-term sequelae of COVID-19 infection; diabetes and dietary education was provided. Discussion: To the best of our knowledge, this is the first case reported in literature of a patient with SSS who presented with T1D onset along with COVID-19 infection. Viral infections such as SARS-CoV-2 virus may trigger the development of autoimmune diseases such as T1D. Exploring the relationship between COVID-19 infection and T1D onset is needed for better understand the effect of COVID-19 infection and outcome on pediatric patients with comorbidities. Further explorations are also needed to study the relationship of SSS and autoimmune disorders as well; to fully appreciate the impact on such patients.

BEREAVEMENT AND MENTAL HEALTH ISSUES FOR INSTITUTIONALIZED CHILDREN

The loss of a caregiver or loved one is a tragic moment, which can have psychosocial impact on a child. Children inside institutions either in foster or residential care are prevalence to the experience of neglect and parental loss bereavement. Bereavement endures a variety of factors that influence negatively on child mental health. The purpose of this concept paper is to explain noteworthy contributions with regards to information on bereavement among children and their psychosocial problems in institutions and residential cares. The attachment theory is significant to explain the association of bereavement and institutions, which supported the evidence that bereavement among vulnerable population inside institution, are at high risk of social deterioration. The theory implies a cause-effect relationship between early attachments. Children are potentially psychologically affected by any traumatic events, which caused them to experience prolong mental developmental delay that are associated with different psychological disorders. Institutionalized children can easily become victim of their psychosocial inability to defend themselves from ruthless violence. Research had examined the differentiating factors of certain symptoms in normal grief and bereavement within the context of depressive disorders, including self-guiltiness, death thoughts, maltreatment, and worthlessness. Experiences of bereavement may occur over the loss, which then shifted to transient withdrawal. Parental loss is one of the most extreme social deprivations that a child can experience Therefore responses to parental loss may be age-specific, related to temperament and to culture. The literature indicated that bereavement in institutional settings has the potential to cause significant risks of mental health with the most prevalent impact related to psychological issues. To cope with the consequences of child maltreatment, prolonged effective interventions should be encouraged. Noteworthy, studies related to bereavement and stress to explain the psychological health issues of children due to parental loss in institutional care are limited, especially within the context of developing countries.

Initial Evaluation Practices to Identify Young Children’s Social Emotional Difficulties

For young children with significant social emotional difficulties, early identification and intervention can mitigate later challenges. Early social emotional difficulties may indicate an early mental health condition, developmental delays, or educational disabilities. The Individuals with Disabilities Education Improvement Act (2004) includes provisions for finding and supporting young children with delays or disabilities associated with social emotional needs. Yet, few young children are identified and connected to services, suggesting identification challenges. We used survey methodology to learn about social emotional evaluation practices used by Child Find teams in Colorado for children evaluated for early intervention and preschool special education eligibility. Results suggested that Child Find professionals relied heavily on observations, parent report, and teacher/caregiver input when determining social emotional eligibility. Fewer providers used standardized screening and validated social emotional tools. While most providers made decisions aligned with Colorado eligibility, others appeared to misunderstand the criteria. Implications and future directions are discussed.

Neurodevelopmental outcomes in children with cyanotic congenital heart disease following open heart surgery.

ABSTRACTBackground:Neurodevelopmental abnormalities are common in congenital heart disease (CHD), more so in cyanotic CHDs. Perioperative factors have been known to affect neurodevelopmental outcomes.Aim:We aimed to determine the neurodevelopmental outcomes following open-heart surgery in cyanotic CHD.Methods:In this prospective observational study, eligible infants and children ≤21 months with cyanotic CHD planned for open-heart surgery underwent preoperative neurodevelopmental assessment using Developmental Assessment Scale for Indian Infants (DASII) to look for any motor and/or mental delay. A second neurodevelopmental assessment was performed after 9 months ± 2 weeks of cardiac surgery. Follow-up DASII was conducted through interactive video conferencing in 23 of 60 patients due to COVID-19 pandemic. The univentricular and biventricular repair groups were compared in terms of their neurodevelopmental outcomes. Perioperative factors were compared between neurodevelopmental “delay” and “no delay” groups.Results:Of the 89 children enrolled, preoperative motor and mental delay were present in 29 and 24 children, respectively. Follow-up DASII could be performed in 60 children. At follow-up, motor delay was present in seven and mental delay in four children. Overall, there was a significant improvement in both motor and mental developmental quotient at follow-up. There was no significant difference in either motor or mental domains between univentricular and biventricular groups. Among the perioperative variables, only the postoperative length of stay in intensive care unit was significantly different between neurodevelopmental “delay” and “no delay” groups (P = 0.04).Conclusion:Neurodevelopmental delay occurred substantially among unoperated children with cyanotic CHD. The neurodevelopmental status improved significantly following open-heart surgery among the survivors. Delay was associated with length of stay in intensive care following cardiac surgery.

ОСОБЕННОСТИ ЭЛЕМЕНТНОГО СТАТУСА ДЕТЕЙ РАННЕГО ВОЗРАСТА С ЗАДЕРЖКОЙ ПСИХИЧЕСКОГО И ФИЗИЧЕСКОГО РАЗВИТИЯ

The aim of the research was a determination of the element’s status features in children 1-3th age with mental and physical retardation. In 36th children from 1-3th age with mental and physical retardation the content of (Ca, Cu, Fe, K, Zn, Mn, S, Br, Se, Co, Cr, Cl, Ni, Mo, Sr, As, Hg, Pb) in hair was determined by a method of X-ray fluorescent spectroscopy. Hair chemical elements content was determined in1-3-year-oldchildren with mental and physical de- velopmental delay suggesting some specificchanges of elemental status. It is established that the examined children had the excess of potassium, chlorine, nickel, chromium, manganese, calcium, on the background of total deficit of zinc, copper, partially of iron and normal content of toxic elements. Excess of potassium, chlorine, nickel, chromium, manganese, calcium in accordance with this research and literature data may be a specific feature of element status at nervous disorders. However, individual assessment of the «element portrait» at diseases of the nervous system in children of early age is important to improve a treatment and rehabilitation. Comparison of the revealed features with previously collected data of healthy children and literature indicates that zinc and copper deficiency is not specific for the children with mental and physical developmental delay but is rather more significant.

Assessment of the formation of life competence skills as a component of the child’s with mental developmental delay readiness for school education

Assessment of the formation of life competence skills as a component of the child’s with mental developmental delay readiness for school education

BEREAVEMENT AND MENTAL HEALTH ISSUES FOR INSTITUTIONALIZED CHILDREN

The loss of a caregiver or loved one is a tragic moment, which can have psychosocial impact on a child. Children inside institutions either in foster or residential care are prevalence to the experience of neglect and parental loss bereavement. Bereavement endures a variety of factors that influence negatively on child mental health. The purpose of this concept paper is to explain noteworthy contributions with regards to information on bereavement among children and their psychosocial problems in institutions and residential cares. The attachment theory is significant to explain the association of bereavement and institutions, which supported the evidence that bereavement among vulnerable population inside institution, are at high risk of social deterioration. The theory implies a cause-effect relationship between early attachments. Children are potentially psychologically affected by any traumatic events, which caused them to experience prolong mental developmental delay that are associated with different psychological disorders. Institutionalized children can easily become victim of their psychosocial inability to defend themselves from ruthless violence. Research had examined the differentiating factors of certain symptoms in normal grief and bereavement within the context of depressive disorders, including self-guiltiness, death thoughts, maltreatment, and worthlessness. Experiences of bereavement may occur over the loss, which then shifted to transient withdrawal. Parental loss is one of the most extreme social deprivations that a child can experience Therefore responses to parental loss may be age-specific, related to temperament and to culture. The literature indicated that bereavement in institutional settings has the potential to cause significant risks of mental health with the most prevalent impact related to psychological issues. To cope with the consequences of child maltreatment, prolonged effective interventions should be encouraged. Noteworthy, studies related to bereavement and stress to explain the psychological health issues of children due to parental loss in institutional care are limited, especially within the context of developing countries.

A comprehensive integrative approach to the organization of project activities of preschool children with mental developmental delay

A comprehensive integrative approach to the organization of project activities of preschool children with mental developmental delay

“Notebooks plus» in teaching firstgraders with mental developmental delay (Part 1)

“Notebooks plus» in teaching firstgraders with mental developmental delay (Part 1)

Features of explaining the meaning of a word by children of preschool age with general underdevelopment of speech and mental developmental delay

Features of explaining the meaning of a word by children of preschool age with general underdevelopment of speech and mental developmental delay

Влияние алкоголя на пренатальное развитие плода

Th e aim of the research. To review the main factors of the adverse eff ects of alcohol on the body of the mother and the fetus. Th e review was compiled using the following databases: Scopus, MedLine, the Cochrane Library, Cyberleninka, RSCI, etc. Material and methods. The analysis of Russian and foreign scientifi c literature used the following keywords: “fetal alcoholic syndrome”, “fetal alcohol spectrum disorder”, “partial alcoholic fetal syndrome”, “alcohol-related disorder”, “neururoperative disorder associated with the prenatal effects of alcohol”, “congenital developmental defects associated with alcohol”. Th e material was compiled from the references of review articles and the selection was carried out based on the scientific value with formation of the fi nal list of literature according to the relevance of the analysed material. Results. The review presents the results of studies confi rming the adverse eff ects of alcohol on the mother’s and foetus’s organism, indicating the need to continue research to develop diagnostic criteria necessary for the diagnosis of fetal alcohol syndrome. The negative effect of alcohol intake on the fetus during intrauterine development manifesting in future neurological and behavioural disorders, mental and physical development delay, congenital defects and the stigma of facial skull dysembryogenesis has been proved. Conclusion. Numerous studies on the effect of alcohol on the mother’s and foetus’s body indicate a negative impact on the latter exerted by alcohol intake in the period of intrauterine development. All this confirms the need to improve the quality of medical care for pregnant women, the need to carry out sanitary and educational events for general practitioners, obstetricians-gynaecologists and medical staff in medical prevention and/or health facilities, as well as in families and the society as a whole.

Acidemia Propionica: Diagnostic, Intervention and Therapeutic Answer in a Case of the Illness in Camaguey

Justification: The acidemia propionica (AP) is one of the most frequent organic acidemias constitutes inside the congenital errors of the metabolism (CEM). The organic acidemias originates of congenital enzymatic defects that affect the catabolism of the ramified amino acids (AACR) valina, leucina, and isoleucina. In the case of the AP, the molecular damage resides in the deficiency of the activity carboxilasa of the propionil-CoA: an enzyme mitocondrial biotina-clerk that catalyzes the propionil-CoA transformation in metilmanolil-CoA, metabolic step that makes possible the degradation of the AACR valina and isoleucina, as well as of the sulfurated metionina and treonina. The precocious diagnosis of the AP is important to prevent the mental delay and the affected boy's death. Objective: To present the case of preescolar with diagnostic of AP from the birth with favorable evolution, in spite of their multiple revenues with secondary states of extreme graveness to disproportionates. Clinical case: Patient of four years of age that began to present rejection to the foods, vomits and retard of the psychomotor development from the birth. The first revenues were motivated by dehydrations and severe metabolic acidosis, with neurological manifestations that took it to the coma in an opportunity. She was carried out the diagnosis of AP and doctors began the necessary and correct dietary treatment. Conclusions: Before a patient with neurological manifestations that could made a mistake with a sharp intoxication in the stage neonatal, accompanied by vomits, retard of the growth, metabolic acidosis of not very clear cause, it should be suspected the acidemia or aciduria propionica or any other of the CEM. Nutritional improvement was observed and of the psychomotor development after the introduction of a diet free of proteins and leaning with supplements of vitamins.

Knowledge about Complication of Congenital Hypothyroidism among Parents in Aseer Region, Saudi Arabia

Background: A lack of thyroid hormone present at birth is described as Congenital Hypothyroidism (CH). A difficulty with thyroid development or thyroid hormone production (dysgenesis) is most frequent in thyroid birth hormone insufficiency. It is one of the main causes of avoidable mental delay in infants This study aims to assess knowledge and awareness of Saudi parents towards complication of congenital hypothyroidism in Aseer region, KSA.
 Methods: A cross sectional study was conducted of general population of Aseer region. Data was collected by means of online questionnaire distributed online to be self-filled by parents. The study included 1086 participants. The collected data was entered and analyzed using the Statistical Package for the Social Science (SPSS Inc. Chicago, IL, USA) version 23. Descriptive statistics was performed.
 Results: All participants were from Aseer region, 39.5% of participants reported consanguinity between parents, 34.5% of all participants had heard of CH. 18.2% identified iodine deficiency during pregnancy as risk factor for CH. 22.6% identified excessive sleeping, 15.2% jaundice and 16% facial swelling. 60.2% did not know CH complications while 22.1% reported poor growth, resulting in short stature as a complication, followed by 14.4% Goiter, 14.1% delayed puberty, 13.5% mental retardation, 12.9% osteoporosis, 9.9% heart defects, and 4.6% bone fractures. 11.9% of all participants identified optimal time to start treatment to prevent complications as the first two weeks of the baby's life
 Conclusion: Parental knowledge of congenital hypothyroidism in Aseer is relatively unsatisfactory. Health campaigns and conferences to raise awareness is necessary looking to catastrophic complications caused by delayed diagnosis and management of the disease.

Extracellular vesicles-derived microRNAs expression as biomarkers for neurological radiation injury: Risk assessment for space exploration

Space missions pose threats to the health of the astronauts due to long-term exposure to galactic cosmic rays and solar particle events comprised predominantly of medium to high energy protons, energetic helium ions, and energetic high atomic number particles (HZEs). While the tissue-specific effects of radiation have been studied extensively, the changes in exosomal miRNA expression levels in response to acute radiation exposure have not been assessed. Extracellular vesicles (EVs) originate from the host cells and contain nucleic acid and proteins that can modify the physiology of the receiving cells via the transfer of genomic, proteomic, and lipids cargo. Detection and analysis of miRNA cargo of circulating EVs is an emerging method for non-invasive diagnosis and monitoring of neurological disorders. This study characterizes the EV-derived miRNA expression profiles of human astrocytes to identify those that are altered after treatment with 3 Gy proton radiation as biomarkers of neurological radiation injury. The relationship between radiation and miRNA extracellular vesicles expression levels was investigated in human astrocytes after treatment with 3 Gy proton radiation at Willis-Knighton Cancer Center. Microarray analysis was performed using miRNA from the EVs enriched fraction in the cell culture medium collected from sham-control and radiation-treated cells. The exosomal levels of 13 miRNAs were significantly (FDR p < 0.05) down-regulated after exposure to high-energy radiation. The computational analysis identified hsa-miR-762, hsa-let-7c-5p, and has-let-7b-5p regulate the highest number of genes being associated with cognitive, mental, and motor delay. These miRNAs target the same subset of genes (Amd1, CCNF, COX6B, PLXND1) that are associated with epileptic encephalopathy; frontotemporal dementia; mitochondrial complex iv deficiency, and a rare neurological condition (Moebius syndrome) respectively. GO enrichment analysis of the biological processes identified overrepresentation in mRNA polyadenylation and regulation of glutamine and long fatty acids transport. Gene expression analysis confirmed the upregulation of the glutamine synthetase after irradiation. Significant fold enrichment of GO l-glutamine transmembrane transporter activity was identified in the molecular function category as well indicating exosome-mediated regulation of this important pathway after proton radiation exposure.

The Epigenome in Neurodevelopmental Disorders.

Neurodevelopmental diseases (NDDs), such as autism spectrum disorders, epilepsy, and schizophrenia, are characterized by diverse facets of neurological and psychiatric symptoms, differing in etiology, onset and severity. Such symptoms include mental delay, cognitive and language impairments, or restrictions to adaptive and social behavior. Nevertheless, all have in common that critical milestones of brain development are disrupted, leading to functional deficits of the central nervous system and clinical manifestation in child- or adulthood. To approach how the different development-associated neuropathologies can occur and which risk factors or critical processes are involved in provoking higher susceptibility for such diseases, a detailed understanding of the mechanisms underlying proper brain formation is required. NDDs rely on deficits in neuronal identity, proportion or function, whereby a defective development of the cerebral cortex, the seat of higher cognitive functions, is implicated in numerous disorders. Such deficits can be provoked by genetic and environmental factors during corticogenesis. Thereby, epigenetic mechanisms can act as an interface between external stimuli and the genome, since they are known to be responsive to external stimuli also in cortical neurons. In line with that, DNA methylation, histone modifications/variants, ATP-dependent chromatin remodeling, as well as regulatory non-coding RNAs regulate diverse aspects of neuronal development, and alterations in epigenomic marks have been associated with NDDs of varying phenotypes. Here, we provide an overview of essential steps of mammalian corticogenesis, and discuss the role of epigenetic mechanisms assumed to contribute to pathophysiological aspects of NDDs, when being disrupted.

Extremely low birth weight infant surviving left congenital diaphragmatic hernia: a case report

In this study, we present the case of a 900 g, male infant born at 27+5 weeks, who was placed on high frequency oscillatory ventilation (HFOV) until repair of a left congenital diaphragmatic hernia (CDH) at 39 days of life (DOL). To date, this is the smallest infant with repair of the left CDH reported in the literature. After birth, he passed the cardiopulmonary stabilization phase and successfully underwent delayed surgery; in the process, he received ventilator assistance through HFOV. He weighed 1,660 gm at the time of surgery. We performed the thoracoscopic primary closure of the diaphragmatic defect. He was extubated on post-operation day (POD) 7 and discharged from hospital on POD 36 with 0.1 L/min supplemental oxygen via nasal cannula. He is being followed for growth and development and there has been no recurrence at the surgical site at 24 months of corrected age. In this case, high mean airway pressure (MAP) was required based on the patient’s weight to achieve adequate recruitment of the left lung, and the patient was diagnosed with mental developmental delay on Bayley Scales of Infant Development-II. Thus, we suggest that the postnatal course and long-term outcomes for extremely low birth weight (ELBW) and preterm infants with left CDH is different from that for full-term babies. Therefore, future research should focus on preterm infants with left CDH.

Implementing the six sigma model on the treatment of congenital hypothyroidism: An analytical hierarchy process.

Background: Congenital hypothyroidism is a disease able to cause severe mental retardation and developmental delays. However, timely diagnosis and treatment of infants with this disease could prevent relevant complications. This study aims to investigate the effects of the implementation of the Six Sigma model on reducing the treatment initiation time in infants with congenital hypothyroidism in the population chosen from Samen Health Center in Mashhad. Methods: In this quasi-experimental study, the referral process of infants for congenital hypothyroidism screening and treatment was evaluated for the time period starting from March 20, 2017, to March 19, 2018, using the standard five-phase quality strategy, description, measurement, analysis, improvement and control phase (DMAIC), based on Six Sigma. Data were collected using the sampling form of the national screening program for congenital hypothyroidism. To analyze the data, software including Expert Choice V11, Microsoft Excel 2013, and SPSS 18, were utilized. In addition, a p-value less than 0.05 was considered statistically significant. Results: The number of infants who entered the intervention process was 4,574, of whom 51.3% (2346 infants) were boys. The mean time to start treatment before the implementation of the model was 21.72±7.72 days, which decreased to 17.41±6.47 days after the implementation of the model (p≤ 0.05). Besides, 81.8% of the patients received treatment during infancy before the intervention, which increased to 94.1% after it. After the implementation of the Six Sigma model, the Sigma level of treatment initiation improved from 2.41 to 3.06. Conclusion: Six Sigma could be used as an intervention tool for improving indices of health intervention processes.

Perlman syndrome research progress

Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.