Impaired Psychomotor Development Research Articles

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out

The X-linked Allan-Herndon-Dudley syndrome (AHDS) is characterized by severely impaired psychomotor development and is caused by mutations in the SLC16A2 gene encoding the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). By targeting exon 3 of SLC16A2 using CRISPR/Cas9 with single-stranded oligodeoxynucleotides as homology-directed repair templates, we introduced the AHDS patient missense variant G401R and a novel knock-out deletion variant (F400Sfs*17) into the male healthy donor hiPSC line BIHi001-B. We successfully generated cerebral organoids from these genome-edited lines, demonstrating the utility of the novel lines for modelling the effects of MCT8-deficency on human neurodevelopment.

Effect Of Spiritual Assistance On The Level Of Anxiety In Parents With Children With Attention Deficit Hyperactvity Disorder (ADHD)

Children with ADHD are a condition of children with various developmental problems such as impaired motor, sensory, language and psychomotor development, this condition can affect a variety of lives. The purpose of this study was to find out how the anxiety level of parents with children with ADHD before and after being given spiritual assistance. This research is a study with a pre-experimental design because there are no control variables and the sample is not chosen randomly. The design used is the one-group pretest-posttest design, so that it can be compared before and after treatment. This research was conducted in the working area of ​​the Colomadu Health Center on March 20-31, 2023. The total population in this study were 24 respondents, and the number of samples was also 24 respondents. Analysis it is found that the p value = 0.000 and the mean is 4.761. this means that the mean value is positive and indicates that there is a decrease in anxiety before and after the treatment of providing spiritual assistance to parents with children with ADHD. This study shows that there is an influence between giving spiritual assistance interventions in the form of prayer guidance and tawakkal on the anxiety level of parents with children with ADHD. This shows that the anxiety of parents with children with ADHD can be overcome by surrendering and drawing closer to God Almighty to pray for the healing of their children. and this means that the readiness of parents can also affect the child's recovery.

Stem/Progenitor Cells and Related Therapy in Bronchopulmonary Dysplasia

Bronchopulmonary dysplasia (BPD) is a chronic lung disease commonly seen in preterm infants, and is triggered by infection, mechanical ventilation, and oxygen toxicity. Among other problems, lifelong limitations in lung function and impaired psychomotor development may result. Despite major advances in understanding the disease pathologies, successful interventions are still limited to only a few drug therapies with a restricted therapeutic benefit, and which sometimes have significant side effects. As a more promising therapeutic option, mesenchymal stem cells (MSCs) have been in focus for several years due to their anti-inflammatory effects and their secretion of growth and development promoting factors. Preclinical studies provide evidence in that MSCs have the potential to contribute to the repair of lung injuries. This review provides an overview of MSCs, and other stem/progenitor cells present in the lung, their identifying characteristics, and their differentiation potential, including cytokine/growth factor involvement. Furthermore, animal studies and clinical trials using stem cells or their secretome are reviewed. To bring MSC-based therapeutic options further to clinical use, standardized protocols are needed, and upcoming side effects must be critically evaluated. To fill these gaps of knowledge, the MSCs’ behavior and the effects of their secretome have to be examined in more (pre-) clinical studies, from which only few have been designed to date.

СОВРЕМЕННЫЕ АСПЕКТЫ ДИАГНОСТИКИ, КОРРЕКЦИИ И СТРАТЕГИИ СО-ПРОВОЖДЕНИЯ ЛЮДЕЙ С РАССТРОЙСТВАМИ АУТИСТИЧЕСКОГО СПЕКТРА

Introduction: Autism spectrum disorder is a widespread disorder characterized by changes in various body systems. Sensory area of patients: It is a heterogeneous neuropsychiatric disorder with a deficit of perception of sensory information, and with expressed disorders in the sphere of communication and speech underdevelopment and limited interests. Motor skills of children: unexpected, spontaneous movements of various parts of the body, and violations of the sequence of basic, habitual actions. Impaired psychomotor development in autism: There is a possibility that the distortion of the mirror neuron system may lead to a lack of speech function, which may cause a lack of ability to learn through imitation mechanisms. Identification, diagnosis of mental development, organization of help: Observations, conversations and medical documentation make it possible to draw a conclusion about the affective development of the child. Principles of medication correction: consist in individual selection of remedies and methods in each individual case and are determined by the child's behavior. Regular and long-term work of qualified specialists consists in selecting the necessary therapy, which includes neuroleptics-risperidone and aripiprazole to reduce negativity, aggression, but they have side effects in the form of carbohydrate metabolism disorders. Conclusion: The article points out the main general task of supporting children with autism spectrum disorders, which is the pursuit of achieving the highest possible level of social adaptation and socialization, which involves knowing the attitudes toward children with autism of different layers of society - from family members to outsiders.

A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies

SCN1A-related diseases are a heterogeneous group of disorders with an expanding spectrum of phenotypes. Until recently, mutations in this gene were associated with epileptic syndromes and epileptic and developmental encephalopathy – Dravet syndrome, which was contrasted with a new group of early-onset syndromes, non-Dravet developmental and epileptic encephalopathies (DEEs; OMIM: PS308350). The aim of this paper is to review published data on the phenotypic variability of SCN1A-related developmental and epileptic encephalopathies, particularly non-Dravet syndromes. These are disorders with very early onset, polymorphic, drug-resistant epileptic seizures, impaired psychomotor development and intellectual disability, as well as the presence of additional symptoms such as arthrogryposis, osteopenia, and hyperkinetic movement disorders. Unlike Dravet syndrome, epileptic seizures begin in the first few months of life and may have an epileptic spasm or tonic morphology. The ability to quickly recognise the non-Dravet developmental and epileptic encephalopathy is of significant clinical value, because the identification of pathogenic SCN1A variants and their functional evaluation have an impact on both treatment and prognosis. Studies on the aetiology of non-Dravet developmental and epileptic encephalopathies have shown that pathogenic variants of the gain of function (GOF) type are identified in these patients. Therefore, it is possible to treat such patients with medicaments from the group of sodium channel blockers, which were contraindicated in cases of loss of function (LOF) variants, occurring in Dravet syndrome.

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution.

Background and ObjectivesCDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked CDKL5 gene coding for a kinase cause CDD. Molecular genetics has proved that almost all pathogenic missense substitutions localize in the N-terminal catalytic domain, therefore underlining the importance for brain development and functioning of the kinase activity. CDKL5 also features a long C-terminal domain that acts as negative regulator of the enzymatic activity and modulates its subcellular distribution. CDD is generally attributed to loss-of-function variations, whereas the clinical consequences of increased CDKL5 activity remain uncertain. We have identified a female patient characterized by mild epilepsy and neurologic symptoms, harboring a novel c.2873C>G nucleotide substitution, leading to the missense variant p.(Thr958Arg). To increase our comprehension of genetic variants in CDKL5-associated neurologic disorders, we have characterized the molecular consequences of the identified substitution.MethodsMRI and video EEG telemetry were used to describe brain activity and capture seizure. The Bayley III test was used to evaluate the patient development. Reverse transcriptase PCR was used to analyze whether the identified nucleotide variant affects messenger RNA stability and/or splicing. The X chromosome inactivation pattern was analyzed determining the DNA methylation status of the androgen receptor (AR) gene and by sequencing of expressed alleles. Western blotting was used to investigate whether the novel Thr958Arg substitution affects the stability and/or enzymatic activity of CDKL5. Immunofluorescence was used to define whether CDKL5 subcellular distribution is affected by the Thr958Arg substitution.ResultsOur data suggested that the proband tends toward a skewed X chromosome inactivation pattern in favor of the novel variant. The molecular investigation revealed that the p.(Thr958Arg) substitution leads to a significant increase in the autophosphorylation of both the TEY motif and residue Tyr171 of CDKL5, as well as in the phosphorylation of the target protein MAP1S, indicating an hyperactivation of CDKL5. This occurs without evidently affecting the kinase subcellular distribution.DiscussionOur data provide a strong indication that the c.2873C>G nucleotide substitution represents an hypermorphic pathogenic variation of CDKL5, therefore highlighting the importance of a tight control of CDKL5 activity in the brain.

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.

Early infantile epileptic encephalopathy type 54: clinical and neurophysiological aspects

A clinical case of a boy aged 20 months old with early infantile epileptic encephalopathy (EIEE) type 54 due to mutated HNRNPU gene presumably suffering from genetic generalized epilepsy and impaired psychomotor development is described. Exome-wide sequencing was carried out by using NextSeq 500 (Illumina, USA). Video electroencephalographic (VEEG) monitoring was conducted by using NeuroScope NS425 (Biola, Russia). The patient was noted to suffer from neonatal delayed motor development and muscular hypotonia with atypical petit mal epilepsy with regional onset at the occipital-parietal-posterior temporal areas based on VEEG data developed at age of eight months as well as progressive psychoemotional disorders. Ethosuximide and valproic acid administered together were efficient in alleviating EIEE seizures that requires to be further followed up. The data obtained allow to identify a precise etiology of epilepsy and apply a differential approach to administer anti-epileptic agents.

Effectiveness of sensory stimulation among children with impaired psychomotor development: a pilot study

IntroductionThe sense of balance, proprioception, and exteroception are key for healthy psychomotor development and proper functioning of human beings. Any disorders in this area may cause dysfunctions, problems with tactile stimuli perception and muscle tone regulation, as well as lack of motion and body awareness. The aim of the study was to evaluate the effectiveness of sensory integration therapy as a method of supporting psychomotor development in children residing in a long-term care and nursing home.MethodsThe study involved 16 children, randomly divided into 2 equal groups, permanently living in a long-term care and nursing home in Poland. None of the children was diagnosed with autism. The psychomotor development was evaluated with the Sensorimotor History Questionnaire (based on the questionnaire by Balzer-Martin) and the Southern California Postrotary Nystagmus Test by Ayres. The research was performed between October 1, 2016 and June 30, 2017. Each participant underwent the test twice – prior to the therapy and after 8 months of therapy.ResultsThere were significant changes in the psychomotor development in the treatment group in areas not correlated with the children’s age.ConclusionsThe therapy using the sensory integration approach can potentially support the development of children who are permanent residents of a long-term care and nursing home. The classic formula of the sensory integration therapy (i.e. 1 session per week) may be insufficient in the case of permanently institutionalized children. The study should be expanded and carried out in larger groups of children.

Multi-omics analysis reveals that co-exposure to phthalates and metals disturbs urea cycle and choline metabolism

This study aimed to evaluate the response of HepaRG cells after co-exposure to phthalates and heavy metals, using a high-dimensional biology paradigm (HDB). Liver is the main metabolism site for the majority of xenobiotics. For this reason, the HepaRG cell line was used as an in vitro model, and cells were exposed to two characteristic mixtures of phthalates and heavy metals containing phthalates (DEHP, DiNP, BBzP) and metals (lead, methylmercury, total mercury) in a concentration-dependent manner. The applied chemical mixtures were selected as the most abundant pollutants in the REPRO_PL and PHIME cohorts, which were studied using the exposome-wide approach in the frame of the EU project HEALS. These studies investigated the environmental causation of neurodevelopmental disorders in neonates and across Europe. The INTEGRA computational platform was used for the calculation of the effective concentrations of the chemicals in the liver through extrapolation from human biomonitoring data and this dose (and a ten-times higher one) was applied to the hepatocyte model. Multi-omics analysis was performed to reveal the genes, proteins, and metabolites affected by the exposure to these chemical mixtures. By extension, we could detect the perturbed metabolic pathways. The generated data were analyzed using advanced bioinformatic tools following the HEALS connectivity paradigm for multi-omics pathway analysis. Co-mapped transcriptomics and proteomics data showed that co-exposure to phthalates and heavy metals leads to perturbations of the urea cycle due to differential expression levels of arginase-1 and -2, argininosuccinate synthase, carbamoyl-phosphate synthase, ornithine carbamoyltransferase, and argininosuccinate lyase. Joint pathway analysis of proteomics and metabolomics data revealed that the detected proteins and metabolites, choline phosphate cytidylyltransferase A, phospholipase D3, group XIIA secretory phospholipase A2, α-phosphatidylcholine, and the a 1,2-diacyl-sn-glycero-3-phosphocholine, are responsible for the homeostasis of the metabolic pathways phosphatidylcholine biosynthesis I, and phospholipases metabolism. The urea, phosphatidylcholine biosynthesis I and phospholipase metabolic pathways are of particular interest since they have been identified also in human samples from the REPRO_PL and PHIME cohorts using untargeted metabolomics analysis and have been associated with impaired psychomotor development in children at the age of two. In conclusion, this study provides the mechanistic evidence that co-exposure to phthalates and metals disturb biochemical processes related to mitochondrial respiration during critical developmental stages, which are clinically linked to neurodevelopmental perturbations.

Subdural hematomas in young children: clinical and electrophysiological features

Subdural hematoma is a sufficiently rare, but serious pathology of the brain in infants, which can lead to severe neurological deficit or result in death. Subdural hematomas are detected in 2025 per 100,000 children under 1 year. A retrospective analysis of autopsy material revealed that subdural hematomas were diagnosed in 72% of children who died before the age of 5 months from intracranial hemorrhage. According to localization, subdural hematomas are divided into supra- and subtentorial, mainly associated localization, which are located along the tent of cerebellum and sickle of the brain, mainly. The main mechanism of development of subdural hematomas is associated with the rupture of the bridge veins of the subdural space as a result of their tension, both traumatic etiology and nontraumatic brain damage, accompanied by progressive cerebral atrophy. It is believed that perinatal hypoxic-ischemic brain damage is one of the leading etiological factors of developed subdural hematomas in young children. In addition, the formation of subdural hematomas in young children can be observed with intraamniotic infections, congenital fermentopathies, and above all, in children with aciduria. In some infants, subdural hematomas occur without clinical manifestation, but in most cases are accompanied by the development of neurological disorders, both in acute and in distant periods. In the main, subdural hematomas in the acute period manifest with focal convulsions with secondary generalization of seizures, behavioral disturbances, respiration, and symptoms of intracranial hypertension. During the formation of chronic subdural hematoma, development of structural epilepsy (up to 20%), microcephaly, impaired psychomotor development is observed. In 55% of young children with acute subdural hematomas, the formation of chronic subdural hematomas is observed.

Karty Oceny Rozwoju Psychoruchowego (KORP) – opis narzędzia i prezentacja jego wykorzystania na przykładzie trzech studiów przypadku dzieci z zaburzeniami słuchu

WstępPrawidłowo funkcjonujące zmysły, w tym słuch, umożliwiają prawidłowy rozwój psychoruchowy dziecka. U dzieci z różnego rodzaju uszkodzeniami słuchu obserwuje się często opóźniony bądź nieharmonijny rozwój psychoruchowy. Karty Oceny Rozwoju Psychoruchowego (KORP) umożliwiają badanie wielu sfer rozwoju, a tym samym szybkie wykrycie nieprawidłowości rozwojowych. Za pomocą KORP można badać zarówno sferę motoryczną, poznawczą, w tym językową, jak również społeczno-emocjonalną oraz funkcje behawioralne, jak i poziom wiedzy i umiejętności uczenia się.CelCelem pracy jest przedstawienie trzech różnych profili rozwoju psychoruchowego dzieci z zaburzeniami słuchu, otrzymanych za pomocą KORP: dziecka prelingwalnie głuchego, dziecka z jednostronną głuchotą oraz dziecka z centralnymi zaburzeniami przetwarzania słuchowego.Materiał i metodaW pracy przedstawiono wyniki trojga dzieci z zaburzeniami słuchu uzyskane w badaniu poziomu rozwoju psychoruchowego za pomocą KORPWynikiU dziewczynki M.L., lat 4, korzystającej z CI, badanie wykonane po 2 latach od aktywacji urządzenia wskazuje na niski poziom funkcjonowania dziecka w zakresie umiejętności językowych i uczenia się (próby związane ze słyszeniem). Dziewczynka R.P., lat 8, z centralnymi zaburzeniami słuchu, wykazuje niski poziom funkcjonowania w 6 z 7 badanych sfer. Chłopiec P.A., lat 4, z jednostronną głuchotą, badany po 2 latach korzystania z CI, wykazuje prawidłowe funkcjonowanie psychoruchowe we wszystkich badanych sferach w odniesieniu do swojego wieku biologicznego.WnioskiKORP może być używany jako narzędzie umożliwiające przeprowadzenie wstępnej diagnozy rozwoju psychoruchowego dzieci z zaburzeniami słuchu i mowy. Uzyskane w tym badaniu wyniki mogą ułatwiać planowanie wielospecjalistycznej pomocy dzieciom z zaburzonym rozwojem psychoruchowym. Wyniki mogą wskazywać, które obszary funkcjonowania dziecka powinny zostać poddane głębszej diagnozie specjalistycznej, a po potwierdzeniu nieprawidłowości rozwojowych – jakie leczenie i rehabilitacja zaburzonych sfer rozwoju będą odpowiednie. KORP można wykorzystywać także w celu ewaluacji zastosowanych form wsparcia specjalistyczno-rehabilitacyjnego.

Iron deficiency anemia among preschool children belonging to affluent families in Kerala, India

Context: Anemia leads to impaired cognitive function, growth, and psychomotor development. Zeroing in on a specific socioeconomic or demographic group and a specific type of anemia, may help in better planning of resources in our battle against anemia. Aims: The aim of this study is to determine the prevalence, severity, risk factors (age, gender, and nutrition status) of iron deficiency anemia (IDA) in apparently healthy preschool children (6–59 months) belonging to affluent families. Settings and Design: A cross-sectional study conducted in a private teaching hospital. Subjects and Methods: A total of 160 children aged 6–59 months, belonging to the upper middle class, who came to the pediatric outpatient department for routine visits over a period of 1 year were evaluated. Sociodemographic data with hemoglobin, red cell indices and iron studies of blood samples were estimated. Statistical Analysis Used: Continuous data were described as mean and standard deviation. Odds ratio with 95% confidence interval was calculated using multiple logistics regression. Results: Among the 160 children evaluated, 48 (30%) were anemic, of which 41 (85.4%) had IDA. Equal proportion (P = 0.84) of boys (25.0%) and girls (26.4%) and equal proportion (P = 0.75) of well-nourished (26.2%) and moderately nourished (23.3%) had IDA. A higher proportion (P Conclusions: A high prevalence among apparently healthy children from affluent families is an indicator that the general population rates will be even higher. This study highlights the need to plan further intervention trials with either iron-rich or iron-fortified foods or iron supplementation, especially among children below the age of 2.

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

Benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) are characterized by transient and recurrent episodes of neurological manifestations. The purpose of this study was to analyse the clinical relationships between these syndromes, associated comorbidities, and genetic bases. In this cross-sectional study, clinical data of patients with BPT, BPV, or BTU were collected with a focus on developmental achievements, learning abilities, and rehabilitation. Neuropsychological assessment and genetic testing were performed. Fifty patients (median age at inclusion 6y) were enrolled. Psychomotor delay, abnormal neurological examination, and low or borderline IQ were found in 19%, 32%, and 26% of the patients respectively. Cognitive dysfunction was present in 27% of the patients. CACNA1A gene mutation was identified in eight families, and KCNA1 and FGF14 mutation in one family respectively. The identification of a CACNA1A mutation was significantly associated with BTU (p=0.03) and with cognitive dysfunction (p=0.01). Patients with BPV were less likely to have cognitive dysfunction. Children with BPT, BPV, or BTU are at high risk of impaired psychomotor and cognitive development. These syndromes should not be regarded as benign and should be considered as part of the spectrum of a neurodevelopmental disorder. Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.

Infant Development at the Age of 6 Months in Relation to Feeding Practices, Iron Status, and Growth in a Peri-Urban Community of South Africa

Background: Evidence on the association between feeding practices, iron deficiency, anaemia, stunting, and impaired psychomotor development during infancy is limited. This study assessed the association between psychomotor development with early feeding practices, growth, iron status, and anaemia. Methods: This was cross-sectional baseline data of a randomised controlled trial which included 6-month-old infants and their mothers or primary caregivers (n = 750) in a peri-urban community in the North West province of South Africa. The Kilifi Developmental Inventory and a parent rating scale were used to assess psychomotor development. Feeding practices and anthropometric measurements were based on the World Health Organisation (WHO) guidelines. Anaemia and iron status were determined by blood sample analysis. Results: Prevalence of anaemia and stunting for the infants were 36.4% and 28.5%, respectively. Multiple regression analysis showed that birth weight was related to combined psychomotor scores (β = −3.427 (−4.603, 1.891), p < 0.001), as well as parent rating scores (β = −0.843 (−1.507, −0.180), p = 0.013). Length-for-age z-scores were associated with combined psychomotor scores (β = −1.419 (−2.466, 0.373), p = 0.008), as well as parent rating scores (β = −0.747 (−1.483, −0.010), p = 0.047). Conclusions: In this setting, with high prevalence of anaemia and stunting, important associations between lower psychomotor development scores and birthweight as well as length-for-age z-scores in 6-month-old infants were found. These findings warrant further investigation to develop a greater understanding of factors influencing the association between child growth and psychomotor development within the first 1000 days of life.

Neonatal thyroid-stimulating hormone concentration and psychomotor development at preschool age

ObjectiveThyroid hormones are essential for normal brain development. The aim of this study is to assess if high concentration of thyroid stimulating hormone (TSH) that is below the clinical threshold...

Describing normal development in an African setting: The utility of the Kilifi Developmental Inventory among young children at the Kenyan coast

The Kilifi Developmental Inventory (KDI) is a tool developed in Kenya for the assessment of psychomotor development in infants and young children. We developed age-appropriate standards against which the developmental progress of individual children could be tracked. The current report is based on three studies completed among 1428 children aged between 5 and 36months and living within rural and urban locations at the Coast of Kenya. We identified age-appropriate cut-offs and expected ranges of performance to facilitate the identification and monitoring of children with impaired psychomotor development.

THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST

Mitochondrial diseases in children are one of the most important interdisciplinary problems in modern pediatrics. The diseases of this group occur due to mutations in nuclear and/or mitochondrial DNA and are manifested by a brain, heart and skeletal muscle lesion (encephalocardiomyopathy). The authors describe a clinical case of NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome in a baby during the first year of life. Early onset in the presence of complete health, the polymorphism of clinical manifestations, such as a central nervous system lesion, muscle weakness, impaired psychomotor development, and seizures, aroused suspicion of the mitochondrial disease; however, the final diagnosis was established by molecular genetic testing. The m8993T&gt;G mutation was found in the MT-ATP6 gene, which confirmed the mitochondrial disease NARP syndrome. The description of the clinical case of the mitochondrial disease in a baby during the first year of life is of real interest to neurologists and pediatricians. Signs, such as the appearance or worsening of initially existing developmental delay in the early period of life, addition of muscle hypotonia with a change in the reflex areas, loss of acquired skills, impaired vision and hearing, and the progressive nature of the disease, may be indicative of the mitochondrial disease and the need to exclude diseases of this group by specific studies, including molecular genetic testing.

Iron Deficiency Anemia in Predominantly Breastfed Young Children

Due to the increase of breastfeeding in infants, iron deficiency anemia (IDA) related to prolonged, predominant breastfeeding should be of concern. Mostly, the manifestation of IDA is indistinguishable and the enthusiastic advocacy of breastfeeding without concomitant education of complementary food may lead to ignorance of breast milk-related IDA, which may result in impaired psychomotor development of the baby. This retrospective study was conducted to re-emphasize this easily ignored but still prevalent illness. This retrospective study involved 15 breastfeeding babies who were diagnosed with IDA between January 2007 and December 2010 at age 6-18 months. The clinical presentation, age at diagnosis, initial hemoglobin level and mean corpuscular volume, growth percentile, and duration of treatment were recorded and analyzed. None of the babies was suspected to have anemia by caregivers. Pallor was noticed by physicians in nine patients; one patient had seizure, one patient had pica, and, for the remaining four patients, IDA was diagnosed incidentally due to other medical events. Oral iron supplementation for an average of 3.6 months improved both hemoglobin level (from 8.0 g/dL to 11.5 g/dL) and mean corpuscular volume (from 57.5 fL to 73.9 fL). Most babies had appropriate growth and normal neurological development; two babies had both IDA and thalassemia. Although the association of IDA with prolonged, predominant breastfeeding is well known, its presentation is so subtle that its detection relies mainly on alert medical personnel.

Association between exposure to dioxin-like polychlorinated biphenyls and miR-191 expression in human peripheral blood mononuclear cells

Accumulating evidence shows an association between deregulation of miRNAs and exposure to environmental chemicals; miRNAs play a unique regulatory role in gene expression. Among environmental pollutants, dioxins are a family of compounds that are known to have multiple hazardous effects. Also, in utero exposure of the fetus to dioxins has been shown to cause impaired psychomotor development, decreased immune function and skin disease. miR-191 is a microRNA that has been found to be up-regulated by dioxin in hepatocellular carcinoma cells in vitro. Our study provides the first molecular evidence in vivo of a positive relationship between levels of polychlorinated biphenyls (PCBs) and miR-191 expression in human peripheral blood mononuclear cells. miR-191 expression was significantly correlated with blood concentrations of total PCB and, in particular, of 3,3′,4,4′,5,5′-hexachlorobiphenyl (PCB 169, a coplanar congener).Blood concentrations of PCB 169 correlated significantly with miR-191 expression in pregnant women living in a PCB-polluted area, who underwent therapeutic abortion due to fetal malformations. These data suggest that miRNAs could be potential biomarkers to clarify the mechanisms of environmental disease.