Syndrome Boys Research Articles

Laparoscopic assisted repair of a giant bilateral congenital Morgagni hernia associated with malrotation in an infant

Morgagni hernia is a rare congenital malformation accounting for less than 5% of all congenital diaphragmatic hernias. Patients may be asymptomatic or present with non-specific respiratory or gastrointestinal symptoms, which can delay the diagnose. While it is highly associated with Down Syndrome, only a few series have reported association with malrotation. The defect can be unilateral or bilateral and colon is the most frequent herniated organ. Laparoscopic assisted repair seems to be the preferable approach for repairing the defect in the last years. We present a case of a 3-year-old Down Syndrome boy that was diagnosed with a giant Morgagni hernia while investigated for reflux disease. At the time of the surgery, he was found to have a bilateral defect with herniation of small bowel, omentum, cecum, appendix, ascending and transverse colon, as well as malrotation. The defects were successfully repaired with the laparoscopic assisted technique. Malrotation was corrected at the same time. Morgagni hernia is a rare congenital disease that can be associated with malrotation, which should always be investigated at the time of surgery. The laparoscopic assisted approach is an easy and safe way to repair the defect. Malrotation when present should be corrected at the same time.

Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living.

Activity-dependent neuroprotective protein (ADNP) is one of the lead genes in autism spectrum disorder/intellectual disability. Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of two ADNP syndrome boys aged 6 and a half and two adults aged 27years (man and woman) were subjected to Vineland III questionnaire assessing adaptive behavior. The boys were assessed again about 2years after the first measurements. The skill measures, presented as standard scores (SS) included domains of communication, daily living, socialization, motor skills and a sum of adaptive behavior composite. The age equivalent (AE) and growth scale values (GSV) encompassing 11 subdomains assess the age level at which the subject's raw score is found at a norm sample median and the individual temporal progression, respectively. The norm referenced standard scores age-matched, mean 100 ± 15 of the two children showed the lowest outcome in communication (SS: 20-30). Daily living skills presented SS of 50-60, with a possible potential loss of some activities as the child ages, especially in interpersonal relationships with people outside of the immediate family (boy A). In contrast, in socialization, both children were at the SS of 38, with some positive increase to SS of ~ 45 (interpersonal relations with family members and coping skills, depending on the particular individual), 2years later. Interestingly, there was an apparent large difference in motor skills (gross and fine) at the young age, with subject B showing a relatively higher level of skills (SS: 70), decreasing to subject A level (SS: 40) 2years later. Together, the adaptive behavior composite suggested a level of SS: 39-48 with B showing a potential increase (SS: 41-44) and A, a substantial decrease (SS: 48-39), suggesting a strong impact of daily living skills. Adults were at SS: 20, which is the lowest possible score. AE showed minor improvements for subject A and B, with all AE values being below 3years. GSVs for subject A showed some improvement with age, especially in interpersonal, play and leisure, and gross motor subdomains. GSV for subject B showed minor improvements in the various subdomains. Notably, all subjects showed a percentile rank < 1 compared with age-matched norms except for subject B as to motor domain (2nd percentile) at the age of 6years. In summary, the results, especially comparing SS and AEs between childhood and adulthood, implied a continuous deterioration of activities compared to the general population, encompassing a slower developmental process coupled to possible neurodegeneration, strongly supporting a great need for disease modifying medicinal procedures.

Analysis of yogic practices and aerobic exercise on flexibility among children with down syndrome

Context: Analysis the impact of Yogic Practices and Aerobic Exercises on Flexibility among children with Down syndrome. Aim: This study aims to identify the effect of Yogic Practices and Aerobic Exercises on Flexibility among children with Down syndrome. Research Design : Random group design was used as research design. Material and Methods : 30 down syndrome boys age group 12 to 18 years have been selected for as final samples for further data collection process of the study. Subjects for study have been chosen from Anugragha special school Kanyakumari district, Tamil Nadu, India. The subjects were divided into three groups, namely Yogic practice group, Aerobic exercise group, and control group, each group consisting of 10 subjects. The subjects were divided into three groups, namely Yogic practice group, Aerobic exercise group, and control group, each group consisting of 10 subjects. The study was conducted on dependent variables such as flexibility.

Metagenome-Scale Metabolic Network Suggests Folate Produced by Bifidobacterium longum Might Contribute to High-Fiber-Diet-Induced Weight Loss in a Prader-Willi Syndrome Child.

Gut-microbiota-targeted nutrition intervention has achieved success in the management of obesity, but its underlying mechanism still needs extended exploration. An obese Prader–Willi syndrome boy lost 25.8 kg after receiving a high-fiber dietary intervention for 105 days. The fecal microbiome sequencing data taken from the boy on intervention days 0, 15, 30, 45, 60, 75, and 105, along with clinical indexes, were used to construct a metagenome-scale metabolic network. Firstly, the abundances of the microbial strains were obtained by mapping the sequencing reads onto the assembly of gut organisms through use of reconstruction and analysis (AGORA) genomes. The nutritional components of the diet were obtained through the Virtual Metabolic Human database. Then, a community model was simulated using the Microbiome Modeling Toolbox. Finally, the significant Spearman correlations among the metabolites and the clinical indexes were screened and the strains that were producing these metabolites were identified. The high-fiber diet reduced the overall amount of metabolite secretions, but the secretions of folic acid derivatives by Bifidobacterium longum strains were increased and were significantly relevant to the observed weight loss. Reduced metabolites might also have directly contributed to the weight loss or indirectly contribute by enhancing leptin and decreasing adiponectin. Metagenome-scale metabolic network technology provides a cost-efficient solution for screening the functional microbial strains and metabolic pathways that are responding to nutrition therapy.

Usefulness of ipsilateral translaminar C2 screws insertion for cervical fixation in children with a low laminar profile: a technical note.

The fusion of the upper cervical spine in children is demanding due to its reduced size, its anatomical complexity, or a severe pathology of the cranio-cervical junction. In some pediatric patients with today's more popular C1-C2 or, occipito-C2 techniques, it is impossible, or very risky to perform a short upper cervical fixation. We present the utility and good results of ipsilateral laminar C2 screws insertion technique in two pediatric cases with low C2 laminar profile. Case 1: a 5-year-old child with a C1-C2 unstable subluxation, and a condylar assimilation of C1, where we performed an occipito-C2 fixation using an occipital plate and this modified translaminar C2 screw technique. Case 2: a 8-year-old Down syndrome boy who suffered an unstable subluxation of C1-C2 upon whom we performed a C1-C2 screw fixation using the same technique. Both cases have been followed up over a period of 7 and 2 years respectively, with good clinical results. We describe the technique and the feasibility of the ipsilateral insertion of translaminar C2 screws in children with low laminar profiles, as a good alternative to other techniques when the anatomy of the C2 does not permit its use or make them very risky.

The effect of balance activity on Down syndrome boys

Objective: The aim of the current study was to investigate the effects of sensorimotor integration activities on the static and dynamic balance skills of trainable little boys with Down syndrome. Materials and Method: In this quasi-experimental study, the purposive and convenience sampling methods were used to select 20 children (aged 8.50±1.60 years old). Then they were randomly divided into the experimental and control groups, each of which had 10 subjects. The modified stork test and the Timed Up and Go test (TUG) were conducted to evaluate the static and dynamic balance skills, respectively. The experimental group received 50 forty-minute training sessions six times a week. In the control group, the subjects used the class training programs. The independent t-tests were carried out to analyze data at 0.05 significance level. Conclusion: The results indicated that sensorimotor integration activities improved static and dynamic balance skills.

DOZ047.90: An interesting and extremely rare case report of PCD and HLHS

Abstract An antenatally diagnosed hypoplastic left heart syndrome boy from Kuwait was transferred in utero for postnatal surgical management. He was born to a nonconsanguineously married couple by spontaneous delivery at 33 + 5 weeks of gestation with a birth weight of 2.4 kg. He was on prostaglandin infusion after birth and shortly underwent bilateral pulmonary artery banding with gore-tex shunts (aorta to pulmonary artery shunts) to let him grow and get over his prematurity for his cardiac surgical palliative procedures. He had some right upper lobe collapse, which was treated with physiotherapy and suctioning to proceed for his first stage cardiac surgical repair (Norwood I). Following this, he had a rough course owing to his cardiac condition but was extubated without many problems in due course. He was persistently tachypnoeic, had two episodes of acute decompensations during his stay due to his lung segment collapse needing invasive ventilation, and was very fragile, needing careful management. He needed noninvasive positive pressure ventilation at other times even when stable, to keep his airways from collapsing. He underwent a bronchoscopy and CT scan when stable enough to do it that showed a normal airway but with thick, tenacious, and clear secretions on bronchoscopy while a CT showed some areas of atelectasis and pulmonary interstitial emphysema. He was investigated for cystic fibrosis and primary ciliary dyskinesia as other causes that could lead to persistent and recurrent atelectasis were ruled out and his acute episodes dealt with appropriately. His genetic testing results have confirmed the clinical diagnosis of primary ciliary dyskinesia and he is being discussed for further management from a multidisciplinary point of view.

A novel site mutation in a wiskott-aldrich syndrome boy: A case report

Introduction: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency caused by WASP mutations. Identification of novel WASP mutations may help understand uncovered pathogenesis. We here noticed a rare case with a novel WASP mutation, which was also detected in his mother and grandmother. This article aimed to detect the genetic features of a WAS family and determine the source of the completely new mutation. Case presentation: This Chinese male infant was admitted to our department at postnatal day 7. He was found thrombocytopenia for 4 days. The family history documented that his two uncles both died in infancy due to repeated infections; his aunt had experienced 2 pregnancies, and both resulted in unexplained abortion. After 18-day treatment, his parents signed the request to discharge. The infant finally died at 9 months old. A novel heterozygous mutation in the exon 9 was found on his X chromosome, that c.928C>T resulting in amino acid changes p.Q310X. This mutation was revealed to be derived from his grandmother to his mother. Conclusion: In conclusion, a novel mutation (c.928C>T) was found in our male infant patient, as well as his mother and grandmother. The patient died from uncontrollable WAS symptoms, as the two boys of his grandmother did. Early detection and diagnosis of new mutation may reduce complications and increase the life expectancy of WAS patients. Prenatal DNA sequencing could be recommended to avoid birth of WAS in particular for male fetuses.

Gambaran Erupsi Gigi Permanen pada Anak Sindrom Down Usia 10-16 Tahun di Sekolah Luar Biasa Kabupaten Jember

Background: Down Syndrome is a genetic disorder that occurs because of chromosome 21 has three chromosome (trisomy 21). The extra chromosome changes the genetic balance, physical characteristic, intellectual abilities, and physiological body function. Tooth eruption in Down Syndrome children typically delayed in both the timing and sequence of eruption up to two or three years. Objective: To observe the permanent teeth eruption in Down syndrome children at age 10-16 years old, boys and girls in Special Needs School in Jember. Materials and Methods: This research was a descriptive study with 7 subjects. Each subject was examined then calculated teeth that had emerged or functionally eruption with articualting paper. Result and Conclusion: Both permanent teeth that is still partially erupted tooth (emerged/ EM) and had erupted perfectly (functionally eruption/ FE) delayed in eruption in Down Syndrome boys and girls at age 10-16 years old.

19番染色体部分トリソミーを合併し非典型的な臨床経過を示したWolf-Hirschhorn syndromeの早産児例

19番染色体部分トリソミーを合併し非典型的な臨床経過を示したWolf-Hirschhorn syndromeの早産児例

A 6 Year Old with Characteristics Similar to Russell Silver and Downs Syndrome Identified as Klinefelter Proband

First described by Klinefelter et al. 1942, this syndrome (KS) is a chromosomal disorder represented by most of the patients with a genotype of 47XXY, and approximately 15% of them are mosaics with variable phenotype. The cytogenetic and biochemical investigations of a 6 year old mosaicism Klinefelter syndrome boy lacking typical clinical features such as tall stature or gynaecomastia but presenting other clinical features such as short stature, asymmetrical body, sparse eyebrows, low set ears, broad nasal ridge, small penis and small testis dysmorphic with Down’s and Russell silver syndrome have been reported. Karyotype from whole blood culture revealed mosaicism with a few number of cells showing the syndrome genotype 47 XXY (24%) and the predominant cell line being normal 46 XY (62%). This was confirmed by fluorescence in situ hybridization (FISH). This is the youngest case to be reported for Klinefelter syndrome as diagnosis is often missed or delayed till adulthood because of the low index of suspicion.

A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter syndrome

Klinefelter syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in serum samples from 40 Klinefelter syndrome pubertal boys with classic 47,XXY karyotype and 157 healthy age-matched controls. 13 Klinefelter syndrome patients also underwent Thyrotropin-Releasing Hormone testing to evaluate hypothalamic-pituitary function. fT3 levels were significantly lower in Klinefelter syndrome patients than in age-matched controls (p < 0.001). No significant differences were found for Thyroid-Stimulating Hormone (p = 0.138) or fT4 (p = 0.274), but the serum levels of Klinefelter syndrome patients tended to cluster around the lower part of the reference range for the assay. Three of the thirteen Klinefelter syndrome patients undergoing the Thyrotropin-Releasing Hormone test had an adequate response, one had a prolonged response at 60 min and nine responded inadequately. This study demonstrated for the first time that pubertal Klinefelter syndrome patients have significantly lower fT3 serum levels than do healthy age-matched boys, whereas Thyroid-Stimulating Hormone and fT4 are normal, albeit at the lower end of the reference range. Most patients showed an inadequate/prolonged response to pituitary stimulation with Thyrotropin-Releasing Hormone. These findings suggest a combined form of both central and peripheral hypothyroidism in Klinefelter syndrome boys during pubertal development.

Motor and somatosensory evoked potential spinal cord monitoring during intubation and neck extension for thyroidectomy in a Down syndrome boy with atlantoaxial instability

Intubation or neck extension can compress the spinal cord in patients with craniocervical instability. Protective motor evoked potential (MEP) and somatosensory evoked potential (SEP) monitoring of these maneuvers is an obvious consideration when these patients undergo already-monitored spinal surgery, but might be overlooked when they undergo other normally unmonitored procedures. Here we report monitoring intubation and neck extension for the unusual indication of thyroidectomy in a Down syndrome boy with atlantoaxial instability. Transcranial electric stimulation thenar MEPs and optimized median nerve SEPs were acquired about every minute throughout intubation and neck extension under propofol and remifentanil anesthesia without neuromuscular blockade. Potentials were stable and there was no neurologic deficit. This approach could protect craniocervical instability patients against cord compression when they undergo intubation and neck extension for surgical procedures that would not otherwise indicate spinal cord monitoring.

Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome.

To evaluate the attitude of parents of Klinefelter syndrome (KS) boys and pediatricians with regard to early detection of KS and fertility preservation, a specific questionnaire investigating the acceptability towards neonatal screening for KS and the use of testicular biopsy and sperm collection was designed. The responses of 49 pediatricians and 18 parents were evaluated. All parents and 67% of the pediatricians consider neonatal screening for KS to be a good option. A total of 83.3% of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2% are in favor of banking spermatozoa after masturbation while 77.7% agree on spermatozoa banking after penile vibro-stimulation or rectal electro-stimulation under general anesthesia. Sixty-nine percent of pediatricians would counsel parents and KS adolescents in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2% agrees on testicular biopsy to detect spermatozoa or eventually spermatogonial stem cells (SSCs) for cryopreservation in minor KS patients. The majority of KS parents and pediatricians, completing a specific designed questionnaire on fertility preservation modalities, were in favor of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.

Promoting Recreation Skills in Severely Retarded Children

The importance of physical education and recreation activities for retarded children has been stressed from many quarters. Accordingly, in a summer day camp for retarded children, behavior modification procedures were examined as a means to increase cliii­dren’s participation iii recreational activities and to demonstrate that supervised staff members can serve as experimenters in camp setting as they modify behaviors that are of concern. Four studies were conducted m which camp personnel acted as primary ex­perimenters; the subjects of these studies ranged from single subjects to entire classroom groups. In the first study, on-task classroom behavior was examined for two boys who displayed higli rates of distractible behavior (e.g., shouting, throwing materials, runnmg, etc.). A token reinforcement procedure was sequentially applied to three different activity classrooms ni a multiple-baseline design. Similar contingencies were arranged for an entire class of children in a second study. Substantial increases iii the classroom participation of ah children were functionally related to the mtroduction of the ex­perimental contingencies. In a third study, the effects of adult social reinforcement on the appropriate play with basketballs and roller skates of a young Down’s Syndrome boy were assessed using a reversal design. Observations made during free play showed increases of 75% iii appropriate play during periods of adult social reinforcement. In the fourth study, extinctjon was employed using a multiple basehine design to reduce disruptive physical contact of a physically handicapped girl. Records kept on the daily number of disruptive physical contacts directed toward two staff members showed that durmg ex­tinction phases, disruptive behavior was nearly ehiminated. Taken together, these four studies demonstrated that (1) day camps can be significant teaching settings for young handicapped children, (2) childrens’ participation in healthy, physical activities can be increased by employing behavior modification procedures, (3) indigenous camp personnel with proper trainmg and supervision can carry out behavior modification techniques and demonstrate proyects with’out disrupting the normal camp routine and as a result have more time to supervise children’s activities, and (4) conditions need to be arranged to msure children’s participation if benefits are to accrue from recreation asid physical education activities.

Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys

Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, due to expansion and methylation of the CGG sequence at the 5' UTR of the FMR1 gene. Around 90% of affected boys present with attention deficit hyperactivity disorder (ADHD), while this percentage is lower in FXS girls (35-47%). Treatment of these behavioral symptoms is critical for many families. In an attempt at identifying drugs capable of restoring the activity of the FMR1 gene, we investigated the use of valproic acid (VPA), a well-known antiepileptic drug, also used as a mood stabilizer and in migraine therapy. It is described as an inhibitor of histone deacetylase (HDAC) and, possibly, as a DNA demethylating agent. In an in vitro study we observed that treatment of lymphoblastoid cells from FXS patients with VPA caused a modest reactivation of FMR1 transcription and increased levels of histone acetylation, confirming the histone hyperacetylating effect, but not its putative DNA demethylating activity. On the basis of these findings, we decided to evaluate the in vivo efficacy of VPA on ADHD symptoms in FXS patients. We observed an improvement in the adaptive behavior, defined as the performance of daily activities required for personal and social competence, due to a significant reduction in hyperactivity after VPA treatment. This treatment could be considered as an alternative to that with stimulants, whose efficacy in patients with FXS needs to be confirmed by further studies.

A double‐blind, parallel, multicenter comparison of L‐acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

Attention deficit hyperactivity disorder (ADHD) is a frequent behavioral problem in young boys with fragile X syndrome (FXS), and its treatment is critical for improving social ability. The short-term efficacy of stimulant medications like methylphenidate (MPH) is well established in children with ADHD. FXS boys treated with MPH have improved attention span and socialization skills; however their mood becomes unstable at higher doses. Therefore, alternative pharmacological treatment of ADHD symptoms is desirable. A recent study showed that carnitine has a beneficial effect on the hyperactive-impulsive behavior in boys with ADHD without side effects. Our previous placebo-controlled trial indicated that L-acetylcarnitine (LAC) reduces hyperactivity in FXS boys. The objective of this study was to determine the efficacy of LAC in a larger sample of FXS boys with ADHD. The study design was randomized, double blind placebo controlled, parallel, and multicenter (with eight centers involved in Italy, France, and Spain). Sixty-three FXS males with ADHD (aged 6-13 years) were enrolled; 7 patients dropped out, 56 completed the one-year treatment, and 51 were included in the statistical analysis. Both groups improved their behavior, showing that psychosocial intervention has a significant therapeutic effect. However, we observed a stronger reduction of hyperactivity and improvement of social behavior in patients treated with LAC, compared with the placebo group, as determined by the Conners' Global Index Parents and the Vineland Adaptive Behavior Scale. Our results show that LAC (20-50 mg/kg/day) represents a safe alternative to the use of stimulant drugs for the treatment of ADHD in FXS children.

Ingestion of a quadhelix appliance requiring surgical removal: a case report

This report presents an unusual case, whereby a 13-year-old Down's syndrome boy accidentally swallowed a removable quadhelix appliance that subsequently required surgical removal. The paper discusses management strategies for patients who have accidentally swallowed components of their orthodontic appliance. It also highlights the need for orthodontists to consider limited objective treatment options for certain patient groups.

Growth charts of Egyptian children with Down syndrome [0-36 months

A study established growth and growth velocity curves for weight, length and head circumference in 350 Egyptian Down syndrome children (188 males and 162 females) from 0-36 months. Down syndrome children had poorer growth variables than normal healthy children through the first 3 years of life. Down syndrome children with associated congenital heart disease (90 cases) had significantly lower weight, especially in girls, compared with those without heart disease. In the first 2 years, growth velocity for weight and head circumference were higher in Down syndrome females than males, while growth velocity for length was higher in males. Down syndrome boys had slightly higher velocity of length than normal children in the first 3 years of life.

Airbrushing heritability.

Airbrushing heritability.