Cephalometric evaluation of hyoid bone position in a patient with Down syndrome: Case report

The hyoid bone contributes to the maintenance of the airway, chewing and swallowing, given to its anatomical and functional relations to the craniocervical complex. Cephalometric analysis has great importance for orthopedics, orthodontics and oral maxillary surgery. For the treatment of patients with special care needs, the cephalometric evaluation of the position of the hyoid bone should also contribute as a complementary element for dental diagnosis and the selection of the adequate treatment. The aim of this paper is to demonstrate the alteration of the hyoid position after carrying out the functional orthopedic maxillary treatment in a 9 year-old patient with Down Syndrome. Initial cephalometric analysis revealed inadequate position of hyoid bone. The association of speech therapy to dynamic functional rehabilitation of jaws showed a positive effect in occlusal relation and facial expression. After treatment, all dimensions obtained from the hyoid triangle were higher than initial ones, except the anterior-posterior value of C3-H, which suggested function improvement of stomatognathic system. Once considered its anatomical and physiological relationship with the others structures of the stomatognathic system, cephalometric analysis of hyoid bone position was helpful to the comprehension of the craniofacial abnormalities related to chromosomal anomaly, and thus is essential to the interdisciplinary dialogue.

Comparative analysis between three methods of bone estimating age in individuals with down syndrome by mode of the hand and wrist ray

The wrist and hand region has been the most commonly used for estimating age and osseous development due to the great number of ossification centers. The aim was to determine which method, Tanner & Whitehouse's (TW3), Greulich & Pyle's (GP) or Eklof & Ringertz's, more closely relates to the chronological age in subjects with Down syndrome with chronological ages between 61 and 180 months, using wrist and hand radiographs. The sample consisted of 85 radiographs, 52 of males and 33 of females. Eklof & Ringertz's method was computerized (Radiomemory). Greulich & Pyle's atlas was used and compared with the wrist and hand radiographs. For the TW3 method, 13 ossification centers were evaluated; for each one of them, there are seven or eight development stages to which scores are assigned; these scores are then added and the results are transformed into osseous age values. No statistically significant differences were observed between the male and female genders for methods TW3 and GP, contrasting with the observed differences for the Eklof & Ringertz method. Correlation (r2) between osseous and chronological ages was 0.8262 for TW3 and 0.7965 for GP, while for the method of Eklof & Ringertz, it was 0.7656 for females and 0.8353 for males. The author concluded that the osseous age assessment method that better related to the chronological age was the TW3, followed by Greulich & Pyle's and Eklof & Ringertz's.

Metabolic syndrome risk factors in overweight, obese, and extremely obese brazilian adolescents

Background: Obesity in infancy and adolescence has acquired epidemic dimensions worldwide and is considered a risk factor for a number of disorders that can manifest at an early age, such as Metabolic Syndrome (MS). In this study, we evaluated overweight, obese, and extremely obese adolescents for the presence of MS, and studied the prevalence of single factors of the syndrome in this population. Methods. A total of 321 adolescents (174 females and 147 males) aged 10 to 16 years, attending the Adolescent Outpatient Clinic of Botucatu School of Medicine, Brazil, between April 2009 and April 2011 were enrolled in this study. Adolescents underwent anthropometric evaluation (weight, height, and abdominal circumference) and Body Mass Index (BMI) was estimated according to age and gender, following Disease Control and Prevention Centers recommendations (CDC, 2000). Blood pressure was measured and individuals with BMI ≥ 85§ssup§th§esup§ percentile were submitted to laboratory evaluation for Total Cholesterol, HDL and LDL Cholesterol, Triglycerides, Fasting Insulinemia, and Fasting Glycemia to identify MS factors, according to the criteria suggested by the International Diabetes Federation. Insulin resistance was calculated by HOMA-IR, Quicki, and Fasting Glycemia/Fasting Insulinemia (FGI). Results and discussion. Of the 321 adolescents, 95 (29.6%) were overweight, 129 (40.2%) were obese, and 97 (30.2%) were extremely obese. Around 18% were diagnosed with MS. The most prevalent risk factors were abdominal circumference ≥90§ssup§th§esup§ percentile (55%), HDL < 40 mg/dL (35.5%), High Pressure ≥130/85 mm/Hg (21%), Triglycerides ≥150 mg/dL (18.5%), and Fasting Glycemia ≥100 mg/dL (2%). Insulin resistance was observed in 65% of the adolescents. Conclusion: An increased prevalence of overweight and obesity, together with cardiometabolic risk factors such as dyslipidemia and abnormal blood pressure, were observed in adolescents, contributing to the onset of metabolic syndrome at younger ages. Risk factors for MS were more prevalent in females. © 2013 Rizzo et al.; licensee BioMed Central Ltd.

Intra-abdominal fat is related to metabolic syndrome and non-alcoholic fat liver disease in obese youth

Background: Previous studies have shown an association between adiposity, especially intra-abdominal adipose tissue, and hemodynamic/metabolic comorbidities in adults, however it is not clear in pediatric population. The aim of the study was to analyze the relationship between non-alcoholic fatty liver disease (NAFLD) and components of metabolic syndrome (MS) with values of intra-abdominal (IAAT) and subcutaneous (SCAT) adipose tissue in obese children and adolescents.Methods: Cross-sectional study. Subjects: 182 obese sedentary children and adolescents (aged 6 to 16 y), identified by the body mass index (BMI). Measurements: Body composition and trunk fat by dual-energy X-ray absorptiometry- DXA; lipid profile, blood pressure and pubertal stage were also assessed. NAFLD was classified as absent (0), mild (1), moderate (2) and severe (3), and intra-abdominal and subcutaneous abdominal fat thickness were identified by ultrasound. The MS was identified according to the cut offs proposed by World Health Organization adapted for children and adolescents. The chi-square test was used to compare categorical variables, and the binary logistic regression indicated the magnitude of the associations adjusted by potential cofounders (sex, age, maturation, NAFLD and HOMA-IR).Results: Higher quartile of SCAT was associated with elevated blood pressure (p = 0.015), but not associated with NAFLD (p = 0.665). Higher IAAT was positively associated with increased dyslipidemia (p = 0.001), MS (p = 0.013) and NAFLD (p = 0.005). Intermediate (p = 0.007) and highest (p = 0.001) quartile of IAAT were also associated with dyslipidemia, independently of age, sex, maturation, NAFLD and HOMA-IR (homeostatic model assessment-insulin resistance).Conclusion: Obese children and adolescents, with higher IAAT are more prone to develop MS and NAFLD than those with higher values of SCAT, independent of possible confounding variables. © 2013 Silveira et al.; licensee BioMed Central Ltd.

Trajectory and outcomes of speech language therapy in the Prader-Willi syndrome (PWS): case report

The aim of this study was to describe the trajectory and the outcomes of speech-language therapy in Prader-Willi syndrome through a longitudinal study of the case of an 8 year-old boy, along four years of speech-language therapy follow-up. The therapy sessions were filmed and documental analysis of information from the child's records regarding anamnesis, evaluation and speech-language therapy reports and multidisciplinary evaluations were carried out. The child presented typical characteristics of Prader-Willi syndrome, such as obesity, hyperfagia, anxiety, behavioral problems and self aggression episodes. Speech-language pathology evaluation showed orofacial hypotony, sialorrhea, hypernasal voice, cognitive deficits, oral comprehension difficulties, communication using gestures and unintelligible isolated words. Initially, speech-language therapy had the aim to promote the language development emphasizing social interaction through recreational activities. With the evolution of the case, the main focus became the development of conversation and narrative abilities. It were observed improvements in attention, symbolic play, social contact and behavior. Moreover, there was an increase in vocabulary, and evolution in oral comprehension and the development of narrative abilities. Hence, speech-language pathology intervention in the case described was effective in different linguistic levels, regarding phonological, syntactic, lexical and pragmatic abilities.

Kasabach-Merritt syndrome: clinical vs. surgical treatment

Kassabach-Merritt syndrome is a combination of capillary hemangioma and thrombocytopenia that predisposes to bleeding with petechiae, ecchymosis and spontaneous bruising. Treatment is generally started with corticosteroids, interferon alpha or chemotherapy. We present the case of a child (aged 1 year and 9 months) with a giant hemangioma, from the root of the thigh to the knee, and thrombocytopenia. Treatment was started with corticosteroids, without improvement, and then intra-tumor and cutaneous bleeding appeared spontaneously. The patient’s clinical condition precluded prescription of vincristine and interferon and emergency tumor resection was conducted because of extreme thrombocytopenia and bleeding. The child then began to develop sepsis with hypotension and ischemia of remnant tissues. This case presented a therapeutic challenge, which is the subject of this article.

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic MS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). Five SRCAP mutations, two of which are recurrent, were identified; all are tightly clustered within a small (111 codon) region of the final exon. These mutations are predicted to abolish three C-terminal AT-hook DNA-binding motifs while leaving the CBP-binding and ATPase domains intact. Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS.

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features. (C) 2011 Elsevier Masson SAS. All rights reserved.

Double shunt technique for hybrid palliation of hypoplastic left heart syndrome: a case report

We report a technique to palliate hypoplastic left heart syndrome, with no PDA stenting, but with double polytetrafluoroethylene shunt from pulmonary artery to ascending and descending aorta by combined thoracotomies. A 30-day-old female was operated with this technique. Five months after first operation, the child was submitted to Norwood/Glenn operation. Good hemodinamic recovery and initial clinical evolution was observed. The child was extubated in 8th post operatory day and reentubated in the next day due to pulmonary infection. Despite antibiotic treatment, the child died after systemic infectious complications.

Child and adolescent psychiatric genetics

The current status of child and adolescent psychiatric genetics appears promising in light of the initiation of genome-wide association studies (GWAS) for diverse polygenic disorders and the molecular elucidation of monogenic Rett syndrome, for which recent functional studies provide hope for pharmacological treatment strategies. Within the last 50 years, tremendous progress has been made in linking genetic variation to behavioral phenotypes and psychiatric disorders. We summarize the major findings of the Human Genome Project and dwell on largely unsuccessful candidate gene and linkage studies. GWAS for the first time offer the possibility to detect single nucleotide polymorphisms and copy number variants without a priori hypotheses as to their molecular etiology. At the same time it is becoming increasingly clear that very large sample sizes are required in order to enable genome wide significant findings, thus necessitating further large-scaled ascertainment schemes for the successful elucidation of the molecular genetics of childhood and adolescent psychiatric disorders. We conclude by reflecting on different scenarios for future research into the molecular basis of early onset psychiatric disorders. This review represents the introductory article of this special issue of the European Child and Adolescent Psychiatry.

Adaptive and Maladaptive Correlates of Repetitive Behavior and Restricted Interests in Persons with Down Syndrome and Developmentally-Matched Typical Children: A Two-Year Longitudinal Sequential Design

We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: `` younger'' 2-4 years; `` older'' 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.

Point mutation tRNA(Ser(UCN)) in a child with hearing loss and myoclonus epilepsy

We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNA(ser(UCN)) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial.

Cardiovascular risk factors and the metabolic syndrome in pediatric nonalcoholic fatty liver disease

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD), the most common cause of liver disease in children, is associated with obesity and insulin resistance. However, the relationship between NAFLD and cardiovascular risk factors in children is not fully understood. The objective of this study was to determine the association between NAFLD and the presence of metabolic syndrome in overweight and obese children. METHODS AND RESULTS: This case-control study of 150 overweight children with biopsy-proven NAFLD and 150 overweight children without NAFLD compared rates of metabolic syndrome using Adult Treatment Panel III criteria. Cases and controls were well matched in age, sex, and severity of obesity. Children with NAFLD had significantly higher fasting glucose, insulin, total cholesterol, low-density lipoprotein cholesterol, triglycerides, systolic blood pressure, and diastolic blood pressure than overweight and obese children without NAFLD. Subjects with NAFLD also had significantly lower high-density lipoprotein cholesterol than controls. After adjustment for age, sex, race, ethnicity, body mass index, and hyperinsulinemia, children with metabolic syndrome had 5.0 (95% confidence interval, 2.6 to 9.7) times the odds of having NAFLD as overweight and obese children without metabolic syndrome. CONCLUSIONS: NAFLD in overweight and obese children is strongly associated with multiple cardiovascular risk factors. The identification of NAFLD in a child should prompt global counseling to address nutrition, physical activity, and avoidance of smoking to prevent the development of cardiovascular disease and type 2 diabetes.

"Rapid two-stage" Norwood operation in a child with multiorgan failure

The Norwood I operation continues to be a procedure with significant operative mortality. One well-accepted risk factor for death after the first step of the Norwood operation is critical preoperative status. We describe herein a new concept for the treatment of patients with hypoplastic left heart syndrome (HLHS) in very poor preoperative condition. This is a case report of a child who was born in a rural hospital. On the second day of life he was referred to our center in multiorgan failure. There were signs of liver dysfunction and the child was anuric. Therapy was started immediately with prostaglandin and vasodilators as well as diuretics, milrinone, and dobutamine. However, systemic perfusion continued to be insufficient. Finally, the child was placed on a ventilator. On the fourth day of life, bilateral pulmonary artery (PA) banding was performed and circulation stabilized immediately. Two hours after the operation urine output started. Liver function stabilized over the next couple of days. Two days after PA banding the child was weaned from the ventilator. On the 12th day of life a Norwood operation with PA debanding and a right ventricle-PA conduit was performed, and 2 days postoperatively the child was weaned from the ventilator. Twenty days after the operation he was discharged home. When the boy was 4 months old a bidirectional cavopulmonary anastomosis was performed. In selected cases of patients with HLHS with very poor hemodynamic conditions, a rapid two-stage approach with bilateral banding followed by a Norwood operation after cardiac stabilization can be recommended.

Attitudes of Parents at risk of inheriting Li-Fraumeni Syndrome towards predictive genetic testing in their minor-aged children.

Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome which predisposes individuals to cancer beginning in childhood. These risks are spread across a lifetime, from early childhood to adulthood. Mutations in the p53 tumor suppressor gene are known to cause the majority of cases of LFS. The risk for early onset cancer in individuals with Li-Fraumeni Syndrome is high. Studies have shown that individuals with LFS have a 90% lifetime cancer risk. Children under 18 have up to a 15% chance of cancer development. Effectiveness of cancer screening and management in individuals with Li-Fraumeni Syndrome is unclear. Screening for LFS-associated cancers has not been shown to reduce mortality. Due to the lack of effective screening techniques for childhood cancers, institutions vary with regard to their policies on testing children for LFS. There are currently no national guidelines regarding predictive testing of children who are at risk of inheriting LFS. No studies have looked at parental attitudes towards predictive p53 genetic testing in their children. This was a cross-sectional pilot study aimed at describing these attitudes. We identified individuals whose children were at risk for inheriting p53 genetic mutations. These individuals were provided with surveys which included validated measures addressing attitudes and beliefs towards genetic testing. The questionnaire included qualitative and quantitative measures. Six individuals completed and returned the questionnaire with a response rate of 28.57%. In general, respondents agreed that parents should have the opportunity to obtain p53 genetic testing for their child. Parents vary in regard to their attitudes towards who should be involved in the decision making process and at what time and under what considerations testing should occur. Testing motivations cited most important by respondents included family history, planning for the future and health management. Concern for insurance genetic discrimination was cited as the most important “con” to genetic testing. Although limited by a poor response rate, this study can give health care practitioners insight into testing attitudes and beliefs of families considering pediatric genetic testing.