Cause Of Mental Retardation Research Articles

Ventricular Shunting Paradigm in Surgical Management of Arrested Hydrocephalus in Children with Distorted Mental Status

Abstract Background: Wide range of psychomotor development abnormalities can occur in compensated hydrocephalus, ranging from minor cognitive changes up to mental retardation; this may be attributed to the difficulty in differentiation between compensated hydrocephalus and slowly progressive hydrocephalus. Aim of Study: To establish whether CSF shunting proce-dures can improve the cognitive development in children with arrested hydrocephalus and apparent clinically normal. Patients and Methods: This study is a prospective rand-omized controlled trial included 20 consecutive children with arrested hydrocephalus in preschool age with no other cause of mental retardation. All the patients had deviated IQ (intel-ligence quotient) below than average) and they were subdivided into 2 groups: Group I control group; 10 patients had been followed-up clinically and group II study group; 10 patients had been surgically managed through ventriculoperitoneal shunting. Anterior fontanelle, orbitofrontal circumference and IQ are assessed initially and 6 months later and compared in both groups. Results: Ventricular shunt improved papilledema (5 out of 6 became normal fundi), improved cognitive function (5 out of 8 mild MR became average 90-110 IQ test). Ventricular shunt did not improve the ventricular size in all patients in both groups who still having papilledema. Conclusions: Young children with arrested HCP without any signs of increased ICP and average IQ should be followed carefully to detect any cognitive delay or decompansation. Ventricular shunting is helpful to improve psychomotor development in patients with cognitive delay.

Improvement in Oral Health and Compliance in a Child with Congenital Hypothyroidism. Case Report

Congenital hypothyroidism is a metabolic disorder that requires special health care interventions. It has influence in overall growth and oral conditions in pediatric patients, and also can affect child cooperation during dental treatment because this metabolic condition is the most common preventable cause of mental retardation. The aim of this paper is to report the dental treatment of a child with congenital hypothyroidism who is four years and five months old, with many facial and oral characteristics of the metabolic condition, including severe early childhood caries and malocclusion. At first, it was observed a lack of cooperation of the patient with speech and learning impairment, but with the help of the Pedagogy team at the Pediatric Dental Clinic Playroom, he developed confidence and diminished anxiety every appointment. We present the follow-up during 15 months, where we could observe favorable outcomes in oral health and compliance of the child.

The Etiology of Mental Retardation in Iraqi Children.

Abstract Background: Mental retardation is a group of heterogeneous disorders associated with generalized developmental delay during infancy and early childhood, while impairment in cognitive functions and adaptive behaviors became generally apparent during pre-school and early school years depending on the severity of the condition. Little is known about the etiology of mental retardation in Iraq. The aim of this paper is to describe the etiology of mental retardation in a sample of Iraqi children. Patients and methods: During one-year period (February 2018 to February 2019), thirty-six patients with mental retardation (25 males and 11 females) were observed at the neuropsychiatry clinic at the Children Teaching hospital of Baghdad Medical City. Their ages ranged from two to seventeen years. Patients with cerebral palsy, atypical autism with mental retardation and Rett syndrome were not included in this series. Results: Eighteen patients (50%) had idiopathic mental retardation (11 males and 7 females). Seven patients (19%) had Down syndrome (5 males and 2 females). Two male patients had Beckwith Wiedemann syndrome, one of them had an affected brother. Three males had inborn errors of metabolism, each one had phenylketonuria, homocystinuria and Lesch Nyhan syndrome. The patient with Lesch Nyhan syndrome had an older brother who died from the same condition. Six patients each one had Prader-Labhart-Willi syndrome, Sanjad Sakati Richardson Kirk syndrome, Coffin Siris syndrome, kernicterus, Bartter syndrome, Pediatric Huntington disease. Nonspecific abnormalities were present in three patients and included bilateral optic atrophy in one boy, squint and obesity in one girl and a second girl had large ears. Brain CT-scan was available for two patients with idiopathic mental retardation and one patient with kernicterus and showed normal findings. Conclusion: The causes of mental retardation in about two thirds of Iraqi patients with mental retardation were idiopathic mental retardation and Down syndrome.

A 10-year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran).

BackgroundCongenital hypothyroidism in infants is the cause of mental retardation in children, it can be detected in patient and treated at a relatively cheap rate, preventing patient retard. This study aimed to determine the prevalence of congenital hypothyroidism among Khorramabad children.MethodsIn the present study, we identified all patients who had received levothyroxine prescriptions during the study period (2007–2017). Using this as a congenital hypothyroidism surrogate marker, we considered the congenital hypothyroidism prevalence in children above 3 years.ResultsOf 574 patients who had received levothyroxine during the neonatal period up to 3 years, the results of one‐variable logistic regression analysis showed that the chance of temporary disease in children with small thyroid ultrasonography was 62% less, than for those without problems, and this difference was significant. The chance of temporary disease in children who had other cases was 87% less than those without problems, and this difference was statistically significant.ConclusionThe overall prevalence of congenital hypothyroidism in young patients up to 3 years is 0.143%, these values are at least twice those of previous estimates. This proposes an elevation in autoimmune thyroid disease, which is similitude to the rising prevalence of diabetes type 1, which possibly indicates a rising incidence of autoimmunity in youth.

Evaluation of thyroid function in a sample of newborns through different modes of delivery

Background and objective: Congenital hypothyroidism is the most common preventable cause of mental retardation detected during early childhood. Its early diagnosis is crucial for a better outcome. Many factors are contributed to this problem including maternal, fetal and others. This study aimed to assess thyroid hormone status in relation to certain obstetrical especially mode of delivery and neonatal factors Methods: A descriptive cross-sectional study conducted in postnatal care and delivery room (operative and vaginal) of Maternity teaching hospital in Erbil city. Ninety-two babies were included and subdivided into three groups according to their route of delivery. A thyroid stimulating hormone cut off value of 10 was selected as the upper normal level for the purpose of the study. Results: A significant proportion of babies with cord thyroid stimulating hormone concentration more than 10 mIU/L (25 out of 92) were noticed, and this is near to many previous studies used the same cut off value. Mean of This hormone is relatively increased among newborns of the elective cesarean section while maternal total triiodothyronine and total thyroxine were higher within the elective group. Prenatal evidence of placental calcification and first born babies were associated with higher thyroid stimulating hormone levels. Conclusion: Emergency cesarean section is less likely to be associated with elevated cord blood thyroid stimulating hormone level compared to other routes of delivery/but this is not confirmatory and recall test is recommended to exclude hypothyroidism.

SAT-547 Pituitary Thyrotrophs: A Generator of Repetitive Calcium Waves in Freely-Moving Animal Models

Hypothyroidism refers to the pathological state of thyroid hormone (TH) deficiency. It affects between 0.3% and 3.7% of the general population in the USA and between 0.2% and 5.3% in Europe. Hypothyroid patients suffer from extreme fatigue, altered heart rate, depression, weight gain, and difficulty in conceiving. Also, maternal hypothyroidism, which affects 0.5% of all pregnant women, is the leading preventable cause of mental retardation in offspring. Importantly, diagnosis of hypothyroidism is based on a single thyroid-stimulating-hormone (TSH) measurement. TSH secretion by pituitary thyrotrophs is under the positive control of hypothalamic thyrotropin-releasing-hormone (TRH) and negative feedback exerted by THs. Despite the undeniable implication of thyrotrophs in the hypothalamus-pituitary-thyroid (HPT) axis regulation, little is known about the mechanisms underlying adaptive TSH secretion. Being the smallest endocrine cell population of the pituitary (2-4%), thyrotrophs display high plasticity in cell shape, number and network topology throughout development and in disease. Moreover, enzymatically-dispersed thyrotrophs lose their ability to express and secrete TSH in both basal and TRH-stimulated conditions. Altogether, these findings led us to the hypothesis that thyrotrophs form a very finely regulated and highly plastic functionally-organized cell population capable of adapting to physiological (i.e. pregnancy) and pathological (i.e. hypothyroidism) demand. The aim of this study was to investigate how thyrotrophs function in their native environment. Using gradient-index (GRIN) lenses implanted at the pituitary level and a 2g head-mounted miniscope, multicellular calcium activities of the thyrotroph population were monitored in freely-moving TSHβ-crexR26fl-flGCaMP6f mice. Strikingly, thyrotrophs displayed both short-lived calcium spikes of high amplitude, and slowly-evolving calcium waves propagating among the thyrotroph population (n=3). Such calcium waves recurred every 80min during episodes lasting 3min and were interspaced by short-lived activity/silent periods. As TSH displays a 2.722min half-life (n=6), repetitive bouts of calcium-dependent TSH exocytosis would lead to cumulative increase in circulating TSH levels. Hence, the thyrotroph population functions in vivo as a robust generator of repetitive calcium waves which would orchestrate the generation of ultradian TSH fluctuations. Such signaling events could be monitored during longitudinal studies (weeks to months) in which individual animals could be their own controls.

Investigation of the incidence rate and geographical distribution of congenital hypothyroidism in the newborns in Ilam Province by using geographic information system (GIS) between 2006 and 2016

Background and Aim: Congenital hypothyroidism is an endocrine disorder and is one of the main causes of mental retardation in the newborns. Genetic, environmental and geographical factors are associated with the disease. This study aimed to evaluate the incidence rate and correlation of geographical factors with congenital hypothyroidism in Ilam Province. Materials and Methods: This study was a descriptive analytical study and evaluated the incidence rate and geographical distribution of congenital hypothyroidism in the newborns in Ilam Province from the beginning of 2006 to the end of 2016. We studied the results of heel samples of the newborns between 3 to 5 days of age who had been screened for congenital hypothyroidism in the referral laboratories of the health centers of the health department of the Ilam University of Medical Sciences in all cities of Ilam Province. We used ArcGIS (ver 10.3) software for evaluation of geographical distribution. Statistical tests of Poisson regression and scatter plot were used to investigate the relationship between geographical factors and the incidence rate of congenital hypothyroidism. Data analysis was performed by use of SPSS 16 software. Results: Based on the findings of the screening of 106900 newborns born in Ilam Province, the incidence of congenital hypothyroidism in this study was 2.61 in 1000 live births (2.7 male newborns / 1000 live births, and 2.48 female newborns / 1000 live births). Among all the patients 55.4 were male and 44.6 were female. There was a significant correlation between the mean annual rainfall and herbal coverage with congenital hypothyroidism (p 0.05). Conclusion: Based on the findings of this study, incidence of congenital hypothyroidism is high in Ilam Province. Abdanan and Ilam cities had the highest incidence rates of hypothyroidism and are among the high risk hotspots of the disease. As a result, authorities should take appropriate measures in order to control and reduce the incidence of this disease in the province. Also, among the geographical factors, the mean annual rainfall, herbal coverage and sunlight were associated with congenital hypothyroidism. © 2019 the Author (s).

Direct Saliva Real-time Polymerase Chain Reaction Assay Shows Low Birth Prevalence of Congenital Cytomegalovirus Infection in Urban Western India.

Congenital cytomegalovirus (cCMV) infection is the leading infectious cause of mental retardation, developmental delay and sensorineural deafness. Nonprimary infection plays a major role in transmission of this infection in countries with high maternal seroprevalence. Noninvasive sampling and testing is a useful alternative to traditional methods of laboratory detection of congenital CMV infection. The present study was conducted to understand birth prevalence of cCMV infection using molecular techniques, in an urban setting of a developing country with evidence of high maternal seroprevalence. Universal newborn screening for cCMV was performed for 750 infants born at a tertiary care center in Western India. Real-time polymerase chain reaction was directly carried out on saliva samples. Follow-up laboratory testing of saliva, urine and blood was performed for neonates identified as positive. Sequential clinical follow-up was offered to the affected infants. A birth prevalence of 0.4% (95% CI: 0.13-1.2) was observed with 3 of 750 babies confirmed to be positive for cCMV infection. All 3 babies were born to seropositive mothers (anti-CMV immunoglobulin G positive). One of the babies detected was symptomatic with sepsis like features. All of them survived and did not develop any sequelae up to 1 year of age. The use of direct real-time polymerase chain reaction of saliva samples can be considered as a feasible option for newborn screening of congenital CMV infection in developing countries. Relatively low birth prevalence of cCMV infection was observed in our study, which needs to be corroborated through further studies.

Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening

The screening programme of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.This article analyses the aims, diagnostic procedures, tests required, aetiology, and differential diagnosis in this disorder. Especially relevant is to perform frequent monitoring to ensure dose adjustments of L-Thyroxine therapy, avoiding infra- or supra-dosing that negatively affects neurosensory functions. Re-evaluation of the aetiology permanent vs transient hypothyroidism is always recommended after 3 years of chronological age.The relevance of this screening programme should be widely discussed in paediatrics. The main objective is to avoid cerebral damage in these patients, and has been highly successful and economically beneficial.Other aspects are required to optimise patient outcomes, to perform all the controls according to the recommendations and to include, in the near future, the diagnosis of central hypothyroidism. Implementation of this programme is necessary to progress in accordance with current scientific knowledge.

Developmental Screening of Children with Congenital Hypothyroidism Using Ages and Stages Questionnaires Test.

Congenital hypothyroidism (CH) is one of the most common causes of mental retardation in children. We investigated the developmental status of children with CH screened by Ages & Stages Questionnaires (ASQ) measurement scores. In this retrospective study, neurodevelopmental status of 78 children diagnosed with CH followed up at the Outpatient Pediatric Endocrinology Clinic of Besat Hospital, Hamadan, Iran from May 2006 to Mar 2013, was evaluated by ASQ method. Data on age, sex, birth weight, birth length, head circumference, residency location, parental education level, primary venous TSH and T4 levels, age at diagnosis, treatment start age and initial levothyroxine dosage were extracted from medical records. Data were analyzed using statistical software SPSS. P-value less than 0.05 was considered statistically significant. Of the 78 patients, 34 (43.6%) were female, 32 (41%) had developmental disorder, and 56 (71.8%) were living in urban areas. Types of developmental impairments included: global motor delay in 13 (40.6%) patients, problem-solving in 11 (34.3%), impaired communication skills in 5 (15.6%), impaired fine motor skills in 2 (6.2%), and impairment of personal social skills in 1 (3.1%). The average ages for diagnosis and treatment were 25.65 days in patients with developmental impairment and 17.99 days in those without developmental delay. ASQ results showed significant statistical correlation with initial dose of levothyroxine (P=0.017), age of hypothyroidism diagnosis (P=0.002) and age of treatment initiation (P=0.018). Early diagnosis and treatment along with initial levothyroxine dose were most important factors of ASQ scores of children with CH. Higher dose of the levothyroxine is required at onset.

Down syndrome with Graves' disease: A lesser thyroid association

Down syndrome is a common cause of mental retardation in pediatric population. These individuals also have increased prevalence of both endocrine and nonendocrine autoimmune disorders with thyroid disorder being the most common endocrine disorder reported. Autoimmune disorders in these patients are associated with early presentation. Hypothyroidism is the most common autoimmune thyroid disease while Graves' disease is rare in patients of Down syndrome. We hereby present a case of Graves' disease in a patient with Down syndrome that clinically presented with symptoms of hyperthyroidism. Early definitive treatment is recommended in view of challenges of compliance to treatment in these mentally challenged individuals.

Cord blood thyroid-stimulating hormone as a screening tool for congenital hypothyroidism: A single-center 5-year experience

Introduction: Congenital hypothyroidism remains one of the most common preventable causes of mental retardation in the pediatric age group. Screening for congenital hypothyroidism is one of the most cost-effective tools to prevent mental retardation among the general population. Umbilical cord blood thyroid-stimulating hormone (CB TSH) estimation remains an easily available option for screening for congenital hypothyroidism. Aim: The aim of this study was to find normative values of CB TSH for the study group and to use CB TSH levels as a screening tool for congenital hypothyroidism. Design: This study was a cross-sectional study. Setting: This study was conducted in a private medical college. Materials and Methods: CB TSH levels were measured in 2916 neonates using chemiluminescence immunoassay. All neonates who had an umbilical CB TSH level >20 mIU/ml were called back on day 7 for a repeat thyroid profile testing. Results: CB samples of 3102 neonates were tested for TSH; of them, 186 samples were hemolyzed, and hence, 2916 neonates formed the study group. Male-to-female ratio was 1544:1378, i.e., 1.2.1. The birth weights of the study group ranged between 0.8 kg and 4.76 kg, with the average birth weight being 2.9 kg. The cohort was divided into two groups: Group 1 (n = 1983) comprised of neonates who were born term and Group 2 (n = 933) comprised of neonates who were born before term gestation. TSH values ranged between 1.2 and 100 mIU/ml. The mean TSH value of the cohort was 7.17 mIU/ml. The mean TSH value in Group 1 was 6.89 mIU/ml, whereas in the Group 2, it was 7.57 mIU/ml. TSH values corresponding to the 3rd, 10th, 25th, 50th, 75th, 90th, 95th, and 97th percentile were 2.3, 2.9, 3.48, 5.4, 7.1, 10.67, 13.4, and 21.4, respectively, in Group 1, whereas TSH values corresponding to the 3rd, 10th, 25th, 50th, 75th, 90th, 95th, and 97th percentile in Group 2 were 2.32, 3.12, 4.12, 5.63, 7.65, 10.67, 13.4, and 22, respectively. Seventy neonates (2.4%) had a CB TSH value >20 mIU/ml and had to be recalled for a repeat workup. Of the 70 babies recalled for repeat testing, 59 turned up and eventually two turned out to be hypothyroid on repeat testing. The incidence of congenital hypothyroidism in our study was 1 in 1458. To conclude, we can safely use a cutoff of CB TSH >20 mIU/ml for screening for congenital hypothyroidism. Conclusion: A cut off Cord Blood TSH value > 20 IU/ml can be used for screening purpose.

Fetal alcohol spectrum disorders in pediatrics. FASD and the pediatrician

Fetal alcohol syndrome (FAS) is a complex and malformative condition due to the teratogenic effect of alcohol consumed during pregnancy. Several epidemiological studies have shown that maternal alcohol use during pregnancy is the most common preventable cause of mental retardation in childhood. The effects of alcohol on the fetus range from abortion to a spectrum of clinical manifestations called Fetal Alcohol Spectrum Disorders (FASD) that includes partial FAS (PFAS), neonatal Alcohol Related Birth Defects (ARBD) and Alcohol Related Neurodevelopmental Disorders (ARND) up to the most severe disease which is the so-called FAS.

Seroprevalence of Toxoplasma gondii infection in mentally retarded children in Egypt

Background:Toxoplasmosis is one of the most common causes of latent infections in humans and animals. Its important clinical aspect is the probable danger of congenital transmission and its severe effects on the fetus. Infection is typically asymptomatic at birth, or is associated with serious neurological or ocular sequelae later in life with a broad spectrum of clinical presentations. Serologic screening detects acute infection in pregnant women which if unrecognized may be transmitted to the unborn. Objective:To investigateserologically the prevalence of toxoplasmosis as a hidden cause of mental retardation (MR) in a sample of children from urban and surrounding rural areas attending the New Children Hospital of Cairo University (Abu Reesh Hospital), Cairo. Materials and Methods: The present study was conducted on 200 children diagnosed as MR attending neurology outpatient clinics as a case group; and 200 samples as a control group fromnon-MR children attending other outpatient clinics with minor complaints like skin manifestations in dermatology clinic, upper respiratory infections and minor gastrointestinal complaints.Venous blood samples from the two groups of children were serologically tested for specific IgG by indirect hemagglutination test (IHAT). Relevant sociodemographic and clinical data related to the children and their mothers was collected using a designed sheet. Results: Our results showedthat the prevalence of toxoplasmosis in the MR children was significantly positive in 84/200 (42.0%) of the case group (P<0.001).The number of positive sera was 35/200 (17.5%) among control group. Associated clinical manifestations in the case group (MR) included convulsions in 53.5%, eye problems in 22.5%, splenomegaly in 16.5% and hepatomegaly in 9.5% of cases. There was no significant difference between urban and rural residences; and relevant risk factors in mothers included history of previous Toxoplasma infection (13.5%), history of abortion and still birth (each 36.5%) and premature deliveries (19.5%). History of contact with cats and consumption of undercooked meat rated 58% and 77.7% respectively. Conclusion: Screening females who are at risk for acquired toxoplasmosis is essential, before and during pregnancy to detect Toxoplasma seroconversion. Conversion from negative to positive testing would indicate exposure to infection, requiring the implementation of early treatment of infection to protect the unborn fetuses from trans-placental transmission.

Congenital Hypothyroidism from Birth to One Year of Age Follow up: A Longitudinal

Background and objectives: Congenital hypothyroidism is the commonest neonatal endocrine disorder and most common treatable causes of mental retardation. The study aimed to find out the important clinical presentations of congenital hypothyroidism at onset of diagnosis and their response to treatment over first year of life. Methods: A longitudinal study conducted in Rapareen Paediatric Hospital, from April, 1st 2015 to May, 1st 2018. The study enrolled 38 neonates and infants with congenital hypothyroidism who divided in two groups, according to the age of presentation. Those presented in the first four weeks of life, and those presented after four weeks of age. Clinical features documented and tests done for all cases in the form of T4 and thyroid stimulating hormone at presentation, and repeated each month for three months, then every three months for one year. Thyroxin started in standard doses of 10–15 mcg/kg/day once a day and titrated to keep T4 level in the normal upper range. Assessment of all growth parameters development was done at each visit. Results: Mean age of presentation was 27(±19) days.Clinical presentations were, large fontanel in 33(86.84%), feeding difficulties 32(84.21%), and large head 17(44.73%),prolonged neonatal jaundice 29(76.31%). All growth parameters showed improvement after three to six months of treatment in both groups, but there was a significant delay in social and language development in-group two. Conclusion: Early diagnosis and treatment is crucial, those received treatment in early life showed near normal growth and development.

Updates on pathogenesis-related genes and diagnosis and treatment of Rett syndrome

Rett syndrome (RTT) is a devastating neurological disorder that is caused largely by mutations in the X-linked gene MECP2, other two genes associated with RTT are CDKL5 and FOXG1.RTT is one of the most common causes of mental retardation in girls, male cases are rare.Classical features of typical RTT include losing acquired spoken language and hand skills, hand stereotypies, epilepsy and respiratory disorders.The diagnosis of RTT mainly depends on the clinical characteristics.Atpresent, it still lacks atargeted treatment.In this review, we summarize both the gene research, diagnosis and treatmentprogresses of RTT so as to improve the understanding of RTT. Key words: Rett syndrome; Female; Mecp2; Diagnosis; Treatment

Availability of adequately iodized salt at household level in Dessie and Combolcha Towns, South Wollo, Ethiopia

BackgroundIodine deficiency disorder is the leading cause of mental retardation and poor economic performance in developing countries. Worldwide, universal salt iodization has been implemented to eliminate iodine deficiency. However, the adequacy of iodine in salts needs close monitoring to meet its intended goal and this study was aimed at investigating the adequacy of iodine in dietary salt at household level in Dessie and Combolcha Towns.MethodsA community-based cross-sectional study was employed at household level in Dessie and Combolcha towns from January to February, 2017. Data were collected from 753 households using systematic sampling technique. The adequacy of iodine in salt was analyzed using rapid testing kit. Socio-demographic and economic, dietary sources, labeling, packaging, storage and cooking methods of household’s characteristics were collected via questionnaire developed using open data kit tool and STATA version 12 was used for further statistical analysis. Ordinal Logistic regression was performed to assess associations between explanatory variables and the response variable.ResultsNearly one-thrid (31.2%) of the households used inadequate iodized salt, which was below the World Health Organization recommendation level (≥15 ppm at the household level). Most of the respondents from Combolcha town (64.6%) were affected by inadequate use of iodized salt as compared to Dessie Town residents (22.2%). Being Dessie resident (OR = 2.53; 95% CI: 1.31–4.90), households with better socioeconomic status (OR = 2.54; 95% CI:1.10–5.87), site of labeling and packing (salt from open market (OR = 0.10; 95% CI: 0.04–0.23) and no exposure to sunlight (OR = 2.54; 95% CI:1.31–4.91) were the predictors of adequacy of iodized salt at household level.ConclusionsAvailability of adequately iodized salt at the household level in the study area was low. There should be regular quality control and regulatory enforcement of salt iodization at production, labeling and packaging sites of small scale industries and at household level.

Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years.

BackgroundPhenylketonuria (PKU) is considered to be a rare inborn error of metabolism but one of the commonest causes of mental retardation if untreated.ObjectivesThe present study was done to characterize the clinical patterns of PKU and analyze various neuropsychiatric outcomes in PKU children in Sohag Province, Egypt.Patients and methodsA prospective cohort study was conducted on 113 PKU patients, diagnosed during the period from 2012 to 2017, at the Pediatric Neurology Clinic of Sohag University Hospital, Upper Egypt. One hundred and ten cases were diagnosed based on clinical suspicion combined with laboratory confirmation by measuring their plasma phenylalanine levels using amino acid analyzer, while 3 cases were detected during neonatal screening. With the exception of the 3 cases detected during neonatal screening, all patients were clinically diagnosed and treated late. Psychometric evaluations of PKU patients were done using intelligence quotient (IQ, Stanford– Binet V), Childhood Autism Rating Scale, and Children’s Attention and Adjustment Survey. Dietetic management was applied. The results of neuroimaging (computed tomography or magnetic resonance imaging of the brain) and electroencephalography were included when available.ResultsThe overall results showed that 15.9% had hyperphenylalaninemia, 35.4% had mild to moderate PKU, and classic PKU was diagnosed in 48.7%. Global developmental delay (54.9%) and delayed language (29.2%) were the most frequent presentations. Moderately impaired or delayed overall IQ was present in 77%. While, 83.2% had moderately impaired or delayed verbal IQ, autism was diagnosed in 50.4%. Super average and average probability of attention-deficit hyperactivity disorder was diagnosed in 88.5%. Abnormal neuroimaging (white matter abnormalities and brain atrophy) was the most important significant predictor for poor language and motor developmental outcome (P<0.05).ConclusionPKU children had variable neuropsychological outcomes, mainly attention-deficit hyperactivity disorder and impaired verbal IQ, both of which were not related to the initial phenylalanine levels or to duration of dietary therapy, but were significantly related to early dietary intervention.

Evaluation of Reactive Oxygen Metabolites in Down Syndrome Persons With Periodontitis— A Comparative Study

Down syndrome (DS) is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Increasing evidence has shown that DS individuals are under unusual increased oxidative stress, which may be involved in the higher prevalence and severity of a number of pathologies associated with the syndrome, as well as the accelerated ageing observed in these individuals. ROS leads to oxidative damage of DNA, proteins and lipids; therefore, oxidative stress may play an important role in the pathogenesis of DS. Periodontal disease is a common problem among DS individuals. The disease starts early in life and progresses with age eventually leading to tooth loss. This study was undertaken to evaluate and compare the levels of ROM in DS subjects with periodontitis and systemically healthy subjects with chronic periodontitis. There is significant increase in levels of ROM and shows statistically significant value (&lt;0.001) in DS with Chronic periodontitis patients.

Medical problems in children with Down syndrome

Background: Down syndrome (DS) is a major cause of mental retardation of prenatal origin and has several associated co-morbidities involving cardiovascular system, respiratory, endocrine system, hematological, gastrointestinal, musculoskeletal, eye and ear defects, immunological changes and neurological system. This study was conducted to identify the common medical problems in children with Down syndrome and the morbidity associated with these conditions. The objective of the present study was to find out the occurrence of different medical problems in children with DS.Methods: 42 children with a phenotype of Down syndrome in the age group of 0-12 years attending the outpatient, inpatient and Down syndrome Clinic of the Institute of Child Health, Kottayam during the study period were included in the study by purposive sampling. Demographic details were entered, and Pediatric Clinical Examination was performed by the investigator himself to identify the medical problems. Old medical reports were reviewed, and data entered into a proforma and statistically analysed.Results: Out of the 42 children with DS, 22 were males. 15 (35.7%) were less than 1 year, 20 (48.3%) children 1-5 years and 7 (16.1%) children 5-12 years of age. Mean age of the study group was 1.78±0.51 years. Mean age of their mothers at the time of conception was 30.6±5.8 years. 26 (57%) children with Down syndrome had a medical problem during the neonatal period which required hospitalization. Almost all systems are affected and craniofacial features, developmental delay and hypotonia were universal. Various forms of congenital heart diseases were observed in 67% and hypothyroidism in 23.8%.Conclusions: Down syndrome is a common genetic disorder with multisystem involvement. Congenital heart diseases, hypothyroidism and recurrent respiratory infections were the common medical problems identified in this study.