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This randomized controlled trial was conducted to assess the effectiveness of a family-based and mobile-assisted lifestyle intervention in reducing weight gain among school-age children with overweight and obesity. A total of 164 school-age children with overweight or obesity and their parents were randomized to the treatment intervention (n = 82) or an attention-control group (n = 82). The treatment intervention included three face-to-face education sessions, augmented by monthly text messages sent to parents on their mobile devices. The primary outcome was child BMI-for-age z-score. Secondary outcomes included child BMI, percent body fat, and actigraphy-assessed sleep as well as parental sleep quality. Outcomes were assessed at baseline, 3, 6, and 12 months after the intervention, with treatment effects analyzed using general linear models for repeated measures. Our results showed that children in the treatment intervention group had significantly lower BMI-for-age z score, BMI, and percent body fat than did those in the control group, with an adjusted mean difference of 0.31 units (95% CI: -0.59 to -0.03; p = 0.03), 1.34 kg/m² (95% CI, -2.42 to -0.26; p = 0.01), and 3.12% (95% CI, -5.93 to -0.30; p = 0.03), respectively. No treatment effects were observed for child and parental sleep. Our findings suggest that family-based and mobile-assisted lifestyle intervention results in significant and sustained benefits to enhanced weight management for school-age children with overweight and obesity. Nurses planning and delivering childhood overweight and obesity treatment interventions should consider a family-based approach with the assistance of mobile devices.
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Obesidad Infantil , Humanos , Masculino , Femenino , Niño , Obesidad Infantil/terapia , Envío de Mensajes de Texto , Estilo de Vida , Índice de Masa Corporal , Padres/psicología , Padres/educación , AdolescenteRESUMEN
This cross-sectional study examined sleep disturbance associations between parents and their school-age children with overweight and obesity. A 7-day wrist-worn actigraph recording was performed on 246 children aged 6-9 years with overweight and obesity recruited from 10 public elementary schools in Taipei, Taiwan. Children's sleep disturbance was assessed using the Children's Sleep Habits Questionnaire. Parental subjective sleep quality was assessed using the Pittsburgh Sleep Quality Index, with parental depressive symptoms measured using the Epidemiologic Studies-Depression Scale. General linear models were used to examine sleep disturbance associations within parent-child dyads. The results showed that 208 (84.6%) children had a clinically significant sleep disturbance score, and 123 (50%) parents had poor sleep quality. Higher children's sleep disturbance scores significantly predicted poorer parental sleep quality (b = 0.11, p < 0.001). Poorer parental sleep quality was associated with more severe sleep disturbances in children (b = 0.46, p < 0.001). This association was independent of children's actigraphic sleep (all p > 0.05) and was not attenuated by adjustment for parental depressive symptoms (b = 0.14, p < 0.001). Findings from our study suggest that sleep disturbances occur in both parents and their school-age children with overweight and obesity, with a significant bidirectional association between the two. Nurses and healthcare professionals should proactively assess and screen for sleep disturbances in parent-child dyads of children with overweight and obesity. Future studies should develop family-based sleep interventions and evaluate their effects on the sleep, health, and well-being of children with overweight and obesity and their parents.
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This was a cross-sectional study to examine sleep and its variability in relation to behavioral outcomes in school-age children with overweight and obesity. A total of 246 school-age children with overweight or obesity were recruited between 2019 and 2021 from 10 public elementary schools in Northern Taiwan. Parents completed sleep and behavior questionnaires, with children wearing an actigraphy monitor for 7 days. Average daily sleep duration by actigraphy was 7.52 h, with 84.6% of the children having clinically significant sleep disturbance scores and 68.3% having a total behavior problem score in the clinical range. Children were categorized by median split for sleep duration and sleep duration variability. Multivariate regression analyses showed that children in the insufficient (duration)-stable (variability) sleep category had significantly higher scores for emotion problems (B = 0.94, p = 0.01), self-control problems (B = 1.61, p < 0.01), and total behavior problems (B = 3.38, p < 0.01) compared to children in the sufficient-stable sleep (reference) category. Children in the insufficient-variable sleep category had significantly higher self-control problem scores compared to children in the reference category (B = 1.03, p < 0.05). Findings from our study suggest that school-age children with overweight and obesity coexist with sleep and behavioral problems, and those who have consistently insufficient sleep are at the greatest risk for the worst behavioral outcomes. Screening for sleep habits and behavioral problems should be considered a standard practice in pediatric overweight and obesity.
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Sobrepeso , Obesidad Infantil , Humanos , Niño , Estudios Transversales , Obesidad , Sueño , Privación de SueñoRESUMEN
BACKGROUND/PURPOSES: Congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency (21-OHD) is a disorder of adrenal steroidogenesis. Achievement of optimal growth by such patients is challenging. We evaluated the adult height of Taiwanese children with 21-OHD and the effect of a gonadotropin-releasing hormone analogue (GnRHa) in patients with central precocious puberty (CPP) complicating 21-OHD. METHODS: Among 116 patients with 21-OHD in Taiwan, 90 who had attained adult height were subjected to an analysis of height outcomes. Nine with progressive CPP were treated with GnRHa and the effects of this therapy on adult height were further analyzed. RESULTS: In the pre-screening era, the percentage of boys with 21-OHD was lower than expected. Although neonatal screening can prevent mortality caused by adrenal crisis, some cases may be missed. The pooled mean adult height of the 78 patients treated with conventional therapy were -1.1 SD and -0.5 SD adjusting for the genetic potential. The disease features affecting height outcomes are the genetic height potential and in boys the simple virilizing type. Nine patients with CPP were treated with GnRHa in addition to conventional therapy; the mean adult height increased from the predicted -4.1 SD to -1.0 SD after 6.0 ± 2.5 years of treatment. CONCLUSION: Patients with 21-OHD had poorer mean adult height. A high caregiver's index of suspicion is required for the early diagnosis of patients with 21-OHD missed on neonatal screening. Adjuvant therapy with GnRHa can improve the adult height of patients with CPP complicating 21-OHD.
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Hiperplasia Suprarrenal Congénita , Pubertad Precoz , Masculino , Recién Nacido , Humanos , Niño , Adulto , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/diagnóstico , Pubertad Precoz/tratamiento farmacológico , Pubertad Precoz/etiología , Terapia Combinada , Taiwán , EstaturaRESUMEN
AIMS: To examine the association of the timing and consistency of parent bedtime routines with infant night-time sleep duration and variability. DESIGN: This was a prospective observational study conducted between November 2012 and November 2016. METHODS: Three hundred and twenty healthy 6-month-old infants were recruited from the well-child clinics of a university-affiliated hospital in northern Taiwan. Participating families provided sociodemographic, health and bedtime routine information. Infants wore an actigraph on the ankle for a week. General linear model analysis was performed with the frequency and timing of bedtime routines treated as the primary predictor variables of interest. RESULTS: One hundred and ninety-seven (61.6%) parents started the bedtime routine for infants after 9 PM, with 162 (50.6%) not having the exact same bedtime routine every night. In both crude and adjusted analyses, starting a bedtime routine after 9 PM was associated with shorter infant night-time sleep duration (b = -23.55, p < 0.01). Infants with a bedtime routine of <3-4 nights per week were associated with more variable night-time sleep duration than a bedtime routine of 5-6 nights per week (b = -7.81, p < 0.05) or every night (b = -8.47, p < 0.05). CONCLUSION: A bedtime routine of at least 5 nights a week and initiated no later than 9 PM was associated with longer and less variable night-time sleep in infancy. Findings suggest that a consistent bedtime routine implemented in accordance with age-appropriate bedtimes should be addressed as part of anticipatory guidance in the well-child clinics. Future studies should include infant sleep variability as an outcome in addition to the conventional mean-level sleep variable analyses to more thoroughly characterize bedtime routine effects.
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Padres , Sueño , Humanos , Lactante , Encuestas y Cuestionarios , Taiwán , Factores de TiempoRESUMEN
Short stature and intellectual disability are two of the major components of many dysmorphic syndromes. Jansen-de Vries syndrome (JDVS) is a rare syndromic disorder that was discovered recently using next-generation sequencing. It is characterized by hypotonia, developmental delay, a dysmorphic face, short stature, and high pain threshold and is caused by the variants of the protein phosphatase magnesium-dependent 1D (PPM1D) gene. Here, we report the first two cases of PPM1D mutations in Taiwan; both had de novo variants in exon 6. Both presented with short stature, developmental delay, and dysmorphic faces. In addition to the characteristics listed above, syndactyly was noted in one. Genetic studies should be considered when approaching a patient with growth retardation, intellectual disability, and other major or minor dysmorphisms.
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Anomalías Múltiples , Discapacidad Intelectual , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Niño , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Exones , Femenino , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , MutaciónRESUMEN
BACKGROUND/PURPOSE: Diabetic kidney disease (DKD) is a major complication in patients with type 1 diabetes (T1D). The aim of this study was to evaluate the role of serum neutrophil gelatinase-associated lipocalin (sNGAL) in the early detection of DKD in childhood-onset T1D patients. METHODS: A total of 116 patients (mean age, 22.3 ± 6.9 years) with estimated glomerular filtration rate (eGFR) ≥ 60 mL/min/1.73 m2 were enrolled in this prospective cross-sectional study. Persistent albuminuria (PA) was defined as a urine albumin-to-creatinine ratio ≥ 30 mg/g for at least two consecutive years; non-albuminuria (NA) was defined otherwise. The patients were divided into the adult (Ad) (≥18 years, n = 91) and pediatric (Ped) (<18 years, n = 25) groups and further into the Ad-PA (n = 8), Ad-NA (n = 83), Ped-PA (n = 2), and Ad-NA (n = 23) subgroups. In all groups, the sNGAL level was determined. RESULTS: The mean diabetes duration was 14.2 ± 6.1 years, and 8.6% patients had PA. There was no significant difference in sNGAL levels between the PA and NA groups; notably, in adults, the sNGAL level was significantly higher in the Ad-PA than Ad-NA subgroups (P = 0.039). The sNGAL level was negatively correlated with the eGFR in adults (rho -0.41, P < 0.001). Multiple linear regression models showed that higher sNGAL levels in the adult group were independent and significant determinants of a lower eGFR (P < 0.001). CONCLUSION: An elevated sNGAL was significantly correlated with a decreased eGFR even in the range of normal to mildly decreased renal function. Thus, it is a potential biomarker of early deterioration of DKD in childhood-onset T1D.
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Diabetes Mellitus Tipo 1 , Nefropatías Diabéticas , Adolescente , Adulto , Biomarcadores , Niño , Estudios Transversales , Diabetes Mellitus Tipo 1/complicaciones , Humanos , Lipocalina 2/orina , Estudios Prospectivos , Adulto JovenRESUMEN
BACKGROUND: Idiopathic (isolated) hypogonadotropic hypogonadism (IHH) is a rare disease that can be classified as Kallmann syndrome (KS) or normosmic IHH (nIHH). This study investigated the phenotype and genotype of IHH in Taiwanese patients. METHODS: Twenty-six unrelated IHH patients were included in this study and their clinical, hormonal, and radiological findings were analyzed retrospectively. Whole exome sequencing (WES) was performed to identify the etiology. RESULTS: The 26 patients (M:F = 19:7) were divided into a KS group (n = 11) and a nIHH group (n = 15). The diagnosis was earlier in boys than in girls. Fifteen patients were found to have pathogenic/likely pathogenic (P/LP) variants of IHH-associated genes, and the mutation detection rate was 58%. CHD7, FGFR1, and ANOS1 were the most common genetic etiologies identified in this group. Two patients with nIHH were found to have de novo SOX11 mutations and Coffin-Siris syndrome features. After treatment, the height outcomes and secondary sexual characteristics were significantly improved. There were no obvious differences between the genetically resolved (GR), variants of uncertain significance (VUS) and genetically unresolved groups (GUR). CONCLUSION: Whole exome sequencing is useful in patients with IHH, and we identified the SOX11 gene as a causal factor in this study. We described the clinical, hormonal, and molecular characteristics, and the treatment outcomes, of Taiwanese patients with IHH, which should aid therapeutic planning and further research.
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Hipogonadismo , Femenino , Humanos , Hipogonadismo/genética , Masculino , Estudios Retrospectivos , Taiwán , Secuenciación del ExomaRESUMEN
BACKGROUND/PURPOSE: The increasing prevalence of overweight and obese children and adolescents has been recognized as a public health threat worldwide. This study aimed to assess the effect of a stepwise lifestyle intervention in children and adolescents. METHODS: We developed a multidisciplinary clinic aimed at providing lifestyle interventions for obese children and adolescents. The program comprised three stages with stepwise goals: knowledge building (the first 4 weeks), habit consolidation (5-12 weeks), and self-monitoring (13-20 weeks). RESULTS: Of the 63 participants (age 11.6 ± 3.2 years) who entered the first stage of the program, 48, 22, and 15 completed the first, second and third stages (4, 12, and 20 weeks), respectively. In the first stage, significant improvement was noted in body weight, body mass index (BMI), BMI z-score, and waist circumference. Improvements in physical fitness performance were observed at 4 weeks in 3/5 items and at 12 weeks in 4/5 items. The decreases in body weight, BMI and BMI z-score were most prominent in the first two stages. In the third stage, participants maintained a stable body weight. In the 15 subjects who completed the whole program, BMI decreased from 29.3 ± 6.9 to 27.8 ± 6.1 (P = 0.001), and BMI z-score decreased from 3.06 ± 0.96 to 2.69 ± 0.91(P = 0.001). CONCLUSION: We developed a feasible multidisciplinary program based on knowledge education and individualized training. BMI and physical fitness scores can be used as early indicators of lifestyle change for obese children and adolescents.
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Sobrepeso , Obesidad Infantil , Adolescente , Índice de Masa Corporal , Peso Corporal , Niño , Humanos , Estilo de VidaRESUMEN
PURPOSE: To examine the association between sleep pattern regularity and measures of weight and length in infants. DESIGN AND METHODS: This was a prospective observational study conducted in a university-affiliated children's hospital in northern Taiwan. A total of 316 healthy infants recruited during their 6-month well-child checkups had their weight and recumbent length measured, and wore an actigraph on the ankle for a week. Based on average weekday, weekend, and all-week sleep durations, infants were categorized into 3 groups: regular sleep, weekend catch-up sleep, and weekend sleep curtailment. General linear model analyses were performed with the 3 sleep regularity groups as the primary predictor variable of interest and infant anthropometry as the dependent variable. RESULTS: At risk of overweight, overweight, and obese was present in a total of 62 (19.6%) infants. In both unadjusted and adjusted models, infants in the weekend catch-up sleep group (30.4%) and those in the weekend sleep curtailment group (34.5%) had significantly higher weight-to-length ratios, body mass index, weight-for-age z-scores, and weight velocity of 6-month increments z-scores when compared with infants in the regular sleep group (35.1%, all p < 0.05). CONCLUSIONS: Differences in weekday-weekend sleep exist as early as in the first 6 months of life, and both catch-up sleep and sleep curtailment over the weekend is associated with higher measures of weight and length in infants. PRACTICE IMPLICATIONS: Sleep assessments in well-child checkups should include not only global assessments of average sleep duration but also address sleep patterns and their regularity.
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Sobrepeso , Sueño , Antropometría , Índice de Masa Corporal , Humanos , Lactante , ObesidadRESUMEN
BACKGROUND & AIMS: Tenofovir disoproxil fumarate (TDF) is the preferred treatment to prevent maternal transmission of HBV, owing to its efficacy and safety. However, data are lacking on the long-term safety outcomes in children following fetal exposure to TDF. METHODS: Children participating in a prospective, multisite trial of maternal TDF treatment during late pregnancy were recruited for follow-up visits once a year. Growth parameters, serum biochemistry, HBV serology, and bone mineral density (BMD) by dual-energy x-ray absorptiometery scan were measured. RESULTS: One hundred and twenty-eight children, 71 in the TDF and 57 in the control group, completed 255 follow-up visits at the age of 2 to 7 (median, 4.08) years. No differences in z-scores for weight-for-age (0.26 ± 0.90 vs. 0.22 ± 0.99, p = 0.481), z-scores for height-for-age (0.20 ± 1.02 vs. 0.25 ± 0.98, p = 0.812), and estimated glomerular filtration rate (169.12 ± 50.48 vs. 169.06 ± 34.46 ml/min/1.73m2, p = 0.479) were detected. After adjustment for age, sex and HBV status by multiple linear regression, children in the TDF and control group had comparable levels of serum calcium, phosphorus, bone-specific alkaline phosphatase, calcidiol and BMD of lumbar spines (0.55 ± 0.01 vs. 0.57 ± 0.01 g/cm2, p = 0.159) and left hip (0.56 ± 0.01 vs. 0.56 ± 0.01 g/cm2, p = 0.926). CONCLUSIONS: Children of HBV-infected mothers who did or did not receive tenofovir disoproxil fumarate treatment during late pregnancy had comparable long-term growth, renal function, and bone development up to 6-7 years after delivery. CLINICAL TRIAL NUMBER: NCT01312012 (ClinicalTrials.gov) LAY SUMMARY: Currently there are insufficient long-term safety data in children born to mothers who took antiviral agents during pregnancy to prevent mother-to-infant transmission of hepatitis B virus (HBV). In this study, we found that children of HBV-infected mothers who did or did not receive tenofovir disoproxil fumarate treatment during late pregnancy had comparable long-term growth, renal function, and bone development up to 6-7 years after delivery.
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Antivirales/efectos adversos , Desarrollo Óseo/efectos de los fármacos , Virus de la Hepatitis B/genética , Hepatitis B Crónica/tratamiento farmacológico , Hepatitis B Crónica/transmisión , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Complicaciones Infecciosas del Embarazo/tratamiento farmacológico , Tenofovir/efectos adversos , Adulto , Niño , Preescolar , ADN Viral/sangre , ADN Viral/genética , Femenino , Estudios de Seguimiento , Tasa de Filtración Glomerular , Hepatitis B Crónica/sangre , Humanos , Riñón/fisiología , Masculino , Embarazo , Complicaciones Infecciosas del Embarazo/sangre , Estudios Prospectivos , Adulto JovenRESUMEN
BACKGROUND/PURPOSE: Thyroid disorders are common in children with Down syndrome (DS), however, such data have rarely been reported in Taiwanese children. This study presents our experience with the management of these children. METHODS: Between 2006 and 2016, 51 children (31 boys and 20 girls) with DS were enrolled. Thyroid function was evaluated and natural course of thyroid status were analyzed. RESULTS: Of 51 patients with DS, 2 had congenital hypothyroidism due to dyshormonogenesis. Of the remaining 49 patients, 30 (61%) had euthyroidism (EuT), and 19 (39%) had subclinical hypothyroidism (SH). Eighteen (37%) had detectable thyroid antibodies. It occurred at any age and the incidence was not affected by sex. The mean follow-up duration for 39 DS children was 3.8 ± 2.4 years. Of the 26 children who had EuT at enrollment and were followed up, 22 remained EuT, 2 developed SH, 1 developed overt hypothyroidism, and 1 developed overt hyperthyroidism. Of the 13 patients with SH who were followed up, 1 was treated for high thyroid-stimulating hormone levels, 8 became EuT, and 4 maintained SH status. Children with DS and persistent SH had significantly higher maximum thyroid-stimulating hormone levels during follow-up than did those with transient SH. Fluctuation in thyroid status during follow-up was not uncommon in children with DS. CONCLUSION: The prevalence of thyroid disorders is higher in Taiwanese children with DS than in the general population. Because symptoms of hypothyroidism overlap those inherent to DS, regular follow-up of thyroid function in children with DS is indicated.
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Síndrome de Down/complicaciones , Hipertiroidismo/complicaciones , Hipotiroidismo/complicaciones , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Prevalencia , TaiwánRESUMEN
Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later. She survived after partial excision of the tumor and chemotherapy. The methylation pattern of the pancreatoblastoma tissue was typical of BWS. Single nucleotide polymorphism (SNP) array analyzes revealed that the pancreatoblastoma tissue had genome-wide loss of maternal alleles. Peripheral blood and nontumor pancreatic tissue showed normal biparental genomic contribution. Interphase fluorescence in situ hybridization analysis with centromeric probes for chromosomes 2 and 11 revealed haploid pancreatoblastoma cells, whereas the placental mesenchymal dysplasia tissue and nontumor pancreas tissue showed diploidy. SNP genotype analysis suggested the presence of mosaicism with the pancreatoblastoma tissue having a different paternal haplotype than that of the peripheral blood and nontumor pancreatic tissue. We report for the first time mosaic paternal haploidy associated with pancreatoblastoma. Babies with placental mesenchymal dysplasia, even those without a definitive diagnosis of BWS, need to be closely followed for the occurrence of embryonic tumors.
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Síndrome de Beckwith-Wiedemann/genética , Mosaicismo , Neoplasias Pancreáticas/genética , Disomía Uniparental/genética , Síndrome de Beckwith-Wiedemann/fisiopatología , Cromosomas Humanos Par 11/genética , Cromosomas Humanos Par 2/genética , Metilación de ADN/genética , Femenino , Genotipo , Haploidia , Humanos , Hibridación Fluorescente in Situ , Lactante , Recién Nacido , Mesodermo/patología , Neoplasias Pancreáticas/fisiopatología , Herencia Paterna/genética , Placenta/patología , Polimorfismo de Nucleótido Simple/genética , Embarazo , Disomía Uniparental/fisiopatologíaRESUMEN
Adequate physical activity is associated with improved sleep in adults. Such associations, however, vary greatly across studies in pediatric populations, with no studies involving infants found in the literature. This prospective observational study was designed, therefore, to examine the association between physical activity and sleep patterns in infants. A total of 183 healthy infants aged 6 months wore an actigraph for 7 days to measure physical activity and sleep. Parents and caregivers completed a sleep-activity diary over the same period documenting the different types of infant activities. Daily mean time spent in screen-time-or-limited physical activity, including screen-based (e.g., watching television or other electronic devices) and non-screen based activity (e.g., quiet play or restricted infant movement when carried by caregivers or seated in high chairs, swings, or bouncer seats), was 6.68 hr (SD = 1.99), which represented 47.50% of daytime waking hours (SD = 13.73). We found that 65 (35.5%) infants engaged in some screen time during the study, with 10 (5.5%) infants having an average daily screen time >30 min. In our multivariate linear regression model, more hours of screen-time-or-limited physical activity per day were significantly associated with a decrease in total daily 24 hr sleep duration (p < 0.01). Findings from our study suggest that reducing screen-time-or-limited physical activity might be an approach for promoting adequate sleep and lengthening infant daily sleep duration.
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Actigrafía/métodos , Conducta del Lactante/fisiología , Actividad Motora/fisiología , Juego e Implementos de Juego , Conducta Sedentaria , Ritmo Circadiano , Femenino , Humanos , Lactante , Cuidado del Lactante/métodos , Masculino , Estudios Prospectivos , TaiwánRESUMEN
BACKGROUND/PURPOSE: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. PATIENTS AND METHODS: We enrolled 19 patients from January 1981 to September 2016. The diagnosis of 45,X/46,XY mosaicism was made by karyotyping peripheral blood lymphocytes. All medical records were thoroughly reviewed. RESULTS: Of the 19 patients, 16 were reared as females and 3 as males. The age at diagnosis ranged from 1 month to 15 years and 9 months. Atypical genitalia, short stature, and Turner stigmata were common manifestations. No patient exhibited a cardiac malformation but 29% had renal malformations and 12.5% had autoimmune thyroid disease who developed thyroid dysfunction later. Nine girls with short stature received growth hormone therapy and their height standard deviation score rose from -3.4 ± 1.1 to -1.4 ± 0.9 in adulthood (P < 0.01). The gonadal phenotypes included bilateral streak gonads in nine patients, a streak gonad with contralateral gonadal agenesis in one, mixed gonadal dysgenesis in five, bilateral dysgenetic testes in two, and bilateral gonadoblastomas in one. CONCLUSION: The 45,X/46,XY phenotype varies widely and a high index of suspicion is important to ensure early diagnosis. Cardiac and renal malformations should be screened ultrasonically at diagnosis and thyroid status should be monitored annually. Growth hormone effectively improves adult height in short girls. Prophylactic gonadectomy is indicated for those with intra-abdominal streaks or dysgenetic gonads to prevent the development of a malignancy.
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Trastornos del Desarrollo Sexual/tratamiento farmacológico , Trastornos del Desarrollo Sexual/genética , Hormona del Crecimiento/uso terapéutico , Mosaicismo , Adolescente , Estatura/genética , Niño , Preescolar , Femenino , Disgenesia Gonadal Mixta/genética , Gonadoblastoma/genética , Humanos , Lactante , Cariotipificación , Masculino , Taiwán , Síndrome de Turner/genéticaRESUMEN
BACKGROUND: Type 1 diabetes (T1D) mellitus is an autoimmune disorder involving both complex genetic and environmental factors. The incidence rates are low in Asian countries, and the specific, explanatory genetic factors underlying this have been investigated. The aim of this study was to elucidate the association of human leukocyte antigen (HLA) alleles/haplotypes with T1D in Taiwan. METHODS: We performed direct comprehensive genotyping of 6 classical HLA loci (HLA-A, -B, -C, -DPB1, -DQB1, and -DRB1) to 4-digit resolution in 104 unrelated T1D patients and 504 controls. Twenty-four of the 104 patients also exhibited thyroid autoimmunity. RESULTS: Three major susceptibility haplotypes were identified: DRB1*03:01-DQB1*02:01 (odds ratio [OR] = 5.39 under the dominant model, P = 2.3 × 10-13 ), DRB1*04:05-DQB1*04:01 (OR = 2.44, P = 5.0 × 10-4 ), and DRB1*09:01-DQB1*03:03 (OR = 2.02, P = 1.4 × 10-3 ); one protective haplotype was identified: DRB1*08:03-DQB1*06:01 (OR = 0.10, P = 1.6 × 10-3 ). DRB1*03:01-DQB1*02:01, the major T1D susceptibility haplotype, was found at a lower frequency in T1D patients with thyroid autoimmunity. The T1D protective allele DRB1*12:02 was shown to be protective against Graves' disease in our previous report. CONCLUSION: In addition to clarifying the roles of several known T1D HLA alleles and haplotypes, we discovered that the DRB1*08:03-DQB1*06:01 haplotype is protective against T1D. The DRB1*12:02 allele protected against both T1D and Graves' disease.
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Diabetes Mellitus Tipo 1/genética , Antígenos HLA/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Diabetes Mellitus Tipo 1/epidemiología , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Técnicas de Genotipaje/métodos , Enfermedad de Graves/epidemiología , Enfermedad de Graves/genética , Prueba de Histocompatibilidad/métodos , Humanos , Masculino , Taiwán/epidemiología , Tiroiditis Autoinmune/epidemiología , Tiroiditis Autoinmune/genéticaRESUMEN
AIMS: To examine the sleep characteristics of infants with parentally reported sleep problems, with parentally reported no sleep problems and with parentally reported uncertain sleep conditions. BACKGROUND: Infant sleep problems are recognized as a major health issue worldwide. However, in our daily clinical practices, it is not uncommon for parents not to know whether their infant sleep is problematic. DESIGN AND METHODS: A prospective study conducted between 2012 - 2015 where 219 parents completed questionnaires and infants wore an actigraph monitor for 7 days. Multinomial logistic regression models were used to evaluate the actigraphic and parentally reported infant sleep behaviours between the groups. RESULTS: Thirty-two (14.61%) parents did not know whether their infant sleep was problematic and 118 (53.88%) parents considered their infant sleep a problem. Compared with infants without sleep problems, infants with uncertain sleep conditions had significantly increased odds of having shortened longest sleep duration according to parental report. A significant association was found for infants without sleep problems compared with those with sleep problems who had significantly more wake after sleep onset as measured by actigraphy, as well as reduced longest sleep duration according to parental report. CONCLUSION: Infants with uncertain sleep conditions have the same problematic sleep behaviours resembling those of children with reported sleep problems. Healthcare professionals should actively disseminate sleep knowledge to help parents interpret infant sleep behaviours and consider possible intervention strategies for improving parental sleep-related knowledge and infant sleep.
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Padres , Trastornos del Sueño-Vigilia/fisiopatología , Sueño , Actigrafía , Adulto , Femenino , Humanos , Lactante , Modelos Logísticos , Masculino , Estudios Prospectivos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , TaiwánRESUMEN
BACKGROUND/PURPOSE: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening. METHODS: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled. Among them, 22 were diagnosed as salt wasting (SW) type and four as simple virilizing (SV) type. Through a review of medical records, their clinical presentations, laboratory data, and molecular studies were analyzed. RESULTS: The most common manifestation was hyperpigmentation. All female neonates regardless of 21-OHD type had atypical genitalia, clitoromegaly, and posterior labial fusion. All of the patients had baseline serum 17-hydroxyprogesterone levels higher than normal. Of the 26 patients, 24 had elevated adrenocorticotropic hormone levels, but only four had low serum cortisol levels. The median baseline adrenocorticotropic hormone, 17-hydroxyprogesterone, and androstenedione levels were significantly higher in patients with SW than in those with SV 21-OHD. All patients with SW 21-OHD had elevated plasma renin activity. The most frequent SW 21-OHD mutations were c.293-13C>G and gene deletion, whereas Ile173Asn and c.293-13C>G were the most frequently detected in SV 21-OHD. CONCLUSION: In Taiwan, neonatal screening effectively leads to the early diagnosis of CAH and reduces fatal adrenal crisis in neonates. This study may provide physicians with a better understanding of the clinical findings among children with early-diagnosed CAH, allowing for better care in the future.
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Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/diagnóstico , Tamizaje Neonatal , Esteroide 21-Hidroxilasa/genética , 17-alfa-Hidroxiprogesterona/sangre , Hormona Adrenocorticotrópica/sangre , Femenino , Humanos , Hidrocortisona/sangre , Hiperpigmentación/etiología , Lactante , Recién Nacido , Masculino , Mutación , TaiwánRESUMEN
BACKGROUND/PURPOSE: The number of children with nutritional rickets in Taiwan has increased over the last decade. The aim of this study was to present our experiences in the management of patients with this condition. PATIENTS AND METHODS: From 2011 to 2016, 10 children (3 boys and 7 girls) with nutritional rickets were enrolled in this study. Their clinical and biochemical data were analyzed. RESULTS: The median age of the 10 patients was 21 months (range, 12-25 months). The predisposing factors included exclusive breastfeeding, dietary restriction, and limited outdoor activities. The most common presentations were unsteady gait and bowlegs, and two patients had hypocalcemic seizures. All patients had elevated alkaline phosphatase levels (median, 1008 U/L; range, 484-2051 U/L), elevated serum intact parathyroid hormone levels (median, 333.8 pg/mL; range, 130-817 pg/mL), and hypophosphatemia (median, 3.0 mg/dL; range, 2.4-3.9 mg/dL). The median serum 25-hydroxyvitamin D level was 7.44 ng/mL (range, 1.44-9.82 ng/mL). After vitamin D supplementation was initiated, serum phosphorus levels normalized within 1 month, and serum intact parathyroid hormone levels returned to the normal range within 2 months. Six of the 10 patients had serum alkaline phosphatase levels close to the normal range within 3 months. All 10 patients exhibited complete bone healing within 6 months of vitamin D treatment. CONCLUSION: Nutritional rickets is not as rare in Taiwan as previously thought. When physicians encounter infants or toddlers with typical bone deformities or hypocalcemic seizures, a high index of suspicion and a detailed nutritional history are important for early diagnosis and treatment.
Asunto(s)
Raquitismo/sangre , Raquitismo/etiología , Deficiencia de Vitamina D/complicaciones , Deficiencia de Vitamina D/tratamiento farmacológico , Fosfatasa Alcalina/sangre , Lactancia Materna , Preescolar , Suplementos Dietéticos , Femenino , Humanos , Lactante , Masculino , Hormona Paratiroidea/sangre , Radiografía , Taiwán , Vitamina D/análogos & derivados , Vitamina D/sangre , Vitamina D/uso terapéuticoRESUMEN
BACKGROUND: SHOX deficiency is a common cause of idiopathic short stature. The aim of this study was to describe the clinical characteristics and molecular findings of patients with SHOX deficiency in Taiwan. METHODS: A phenotype scoring system was used to evaluate several anthropometric measures in patients with idiopathic short stature. Twenty-three patients with a phenotype score >7 were enrolled for SHOX gene analysis by MLPA and sequencing. Another patient with a deletion/insertion of the short arm of the X chromosome containing the SHOX gene was enrolled for the assessment. RESULTS: SHOX deficiency was detected in 26% of short children with a phenotype score >7. The arm-span-to-height ratio was significantly lower in SHOX-D patients than in non-SHOX-D patients. In patients with SHOX deficiency, an arm-span-to-height ratio <96.5% and short forearm were the most common characteristics. Three patients also exhibited typical radiological findings. A molecular analysis of the SHOX gene revealed five patients with intragenic deletions, one with a deletion in the regulatory region, and one with a missense mutation at exon 5. CONCLUSION: The phenotype scoring system is useful to select children with SHOX deficiency in Taiwan. Family history and radiological image of the radius are also of value for the diagnosis. This study may aid physicians in the early diagnosis of children with SHOX deficiency.