Risk Factors and Clinical Characteristics of Congenital Primary Hypothyroidism: A Case-control Study in Ulaanbaatar, Mongolia

Objective: The study aimed to identify the risk factors and clinical features of congenital primary hypothyroidism (CPH). Methods: A matched case-control study recruited all children diagnosed with congenital primary hypothyroidism and children without disease as a control between 2012 and 2020. Controls were matched on their gender and age. We collected information on demographic, clinical, and laboratory characteristics from patient’s medical records. Results: The birth weight (OR = 1.1; p = 0.001), gestational age (OR = 2.24; p < 0.001), maternal age (OR = 1.21; p < 0.001), additional congenital disabilities (OR = 1.1; p = 0.015) and maternal hyperthyroidism (OR = 1.21; p < 0.011) were significant factors for CPH. The baby’s height (OR = 0.2; p = 0.012), maternal gestational diabetes (OR = 0.2; p = 0.002) and being a twin (OR = 0.91; p = 0.010) were significant protective factors for CPH. In terms of clinical symptoms of CPH, 70.2% had shown no clinical signs at births in our study. The most commonly identified clinical signs were: umbilical hernia, open posterior fontanel, feeding difficulty, hypothermia, abdominal stiffness, cold or mottled skin, prolonged jaundice, and low muscle tone. Conclusion: Children with CPH are often symptom-free at birth, and several risk factors contribute to CPH

Vitamin D Status in Mongolian Pregnant Women and Birth Outcomes

Objectives:Vitamin D deficiency and insufficiency in pregnancy can lead to gestational diabetes, preeclampsia, and eclampsia, as well as newborns having Vitamin D deficiency. This study was performed to determine the amount of maternal, neonatal Vitamin D, and consequences of Vitamin D deficiency on birth outcomes. Methods: Hospital-based prospective research was conducted on 528 participants which included 264 mothers and 264 neonates. Pre-delivery maternal venous blood and neonatal cord blood samples were collected and total 25(OH)D concentration was measured. After checking the normality of data distribution, methods of result presentation and statistical analyses were applied. Results: The average level of 25(OH) D in the mother’s blood was 16.53 ± 6.5 ng/ml. The total Vitamin D deficiency in mothers was 191 (72.3%), insufficiency was 63 (23.9%), and 10 (3.8%) registered levels of sufficiency. Maternal serum 25(OH)D was significantly correlated with cord blood 25(OH)D (r = 0.87, p < 0.01). Conclusion: A high proportion of Vitamin D deficiency was found in both mothers and newborns in our study. There is a strong correlation between the amount of Vitamin D in the mother’s blood and in the umbilical cord blood of the newborn. Complications of pregnancy are not associated with Vitamin D status in mother’s blood

Evaluating Features of Congenital Primary Hypothyroidism and Its Outcomes in Mongolia

Objectives: Our goal was to assess the outcomes of congenital primary hypothyroidism and evaluate forms of dysgenesis forms among children diagnosed with congenital primary hypothyroidism Methods: A cross-sectional study recruited all children diagnosed with congenital primary hypothyroidism between 2013 and 2020. All data, including demographic, clinical examination report, laboratory test results, and results of hand x-ray and ultrasound of thyroid glands, was collected from parents and medical records at hospitals. Results: Thyroid dysgenesis accounted for 76.3% of the causes of congenital primary hypothyroidism. Of all participants, 43% had an intellectual disability, and their average delayed bone age was 12.74 months. The most common abnormality of the thyroid gland was hypoplasia (76.3%). The age at diagnosis was the significant predictor for skeletal maturity delay (k = 0.25; 95% Cl = 0.17 - 0.33; p < 0.001) and for intellectual disability (a OR = 1.04; p < 0.004). Conclusions: Dysgenesis of the thyroid gland was the main cause of congenital hypothyroidism. Age of diagnosis of congenital primary hypothyroidism was a significant determinant of irreversible adverse later outcomes among children in Mongolia

The Effectiveness of Adjunctive Therapies Following Botulinum Toxin Type A Injections in Children with Cerebral Palsy

Objectives: To investigate the effectiveness of intermittent vs. continuous adjunctive therapies following BoNT-A injections for children with cerebral palsy (CP).Methods: A quasi-experimental study was conducted with 80 participants with CP who received adjunctive therapies including physiotherapy and functional electrical stimulation after BoNT-A injections. The participants were randomly divided into two groups. In group A, half of the participants received intermittently adjunctive therapies. In group B, adjunctive therapies were organized continuously for another half. We measured changes in spasticity and dynamic spasticity used by the Modified Ashworth Scale and the Modified Tardieu Scale, and gross motor function used the Gross Motor Function Measure-88. Measurement of spasticity was carried out pre-injections and then 1- and 3-months post-injections. Measurement of gross motor function was organized pre- and post-injections.Results: The effectiveness of BoNT-A injections presented significant improvement in spasticity and gross motor function when it was combined with adjunctive therapies. The continuous adjunctive therapies had a greater reduction of spasticity. Both intermittent and continuous adjunctive therapies had a significant improvement in gross motor function.Conclusions: Our findings add to the evidence of the effectiveness of using different intervals of short-term adjunctive therapies for children with CP after BoNT-A injections

The Effect of Botulinum Toxin- A injection for the Lower Limb in Children with Spastic Cerebral Palsy

Objectives: To investigate the effect of botulinum toxin-A (BoNT-A) on the age groups and gross motor function classification level in children with cerebral palsy (CP).Method: In this study, 116 children with spastic CP were investigated. BoNT-A was injected into the spastic muscles of the lower limbs of all participants. All participants received physiotherapy and functional electrical stimulation for 3 months after injection. We measured the change in spasticity using the Modified Ashworth Scale and gross motor function using the GMFM-88. Spasticity was measured before injection and at 1 and 3 months after injection. Measurement of gross motor function was performed before and after the injections. Results: The effect of BoNT-A injection in combination with physiotherapy and electrical stimulation significantly improved spasticity and gross motor function. After BoNT-A injection, younger children showed reduced spasticity and improved gross motor skills compared to older children. At the gross motor level, sitting, standing, and walking improved in children with gross motor function classification levels I-III, and posture and mobility improved in children with gross motor function classification levels IV-V.Conclusions: We conclude that BoNT-A injection is effective for improving gross motor function in patients younger than 72 months of age

Attitudes of Healthcare Providers towards Non-initiation and Withdrawal of Neonatal Resuscitation for Preterm Infants in Mongolia

Antenatal parental counselling by healthcare providers is recommended to inform parents and assist with decision-making before the birth of a child with anticipated poor prognosis. In the setting of a low-income country, like Mongolia, attitudes of healthcare providers towards resuscitation of high-risk newborns are unknown. The purpose of this study was to examine the attitudes of healthcare providers regarding ethical decisions pertaining to non-initiation and withdrawal of neonatal resuscitation in Mongolia. A questionnaire on attitudes towards decision-making for non-initiation and withdrawal of neonatal resuscitation was administered to 113 healthcare providers attending neonatal resuscitation training courses in 2009 in Ulaanbaatar, the capital and the largest city of Mongolia where ~40% of deliveries in the country occur. The questionnaire was developed in English and translated into Mongolian and included multiple choices and free-text responses. Participation was voluntary, and anonymity of the participants was strictly maintained. In total, 113 sets of questionnaire were completed by Mongolian healthcare providers, including neonatologists, paediatricians, neonatal and obstetrical nurses, and midwives, with 100% response rate. Ninety-six percent of respondents were women, with 73% of participants from Ulaanbaatar and 27% (all midwives) from the countryside. The majority (96%) of healthcare providers stated they attempt pre-delivery counselling to discuss potential poor outcomes when mothers present with preterm labour. However, most (90%) healthcare providers stated they feel uncomfortable discussing not initiating or withdrawing neonatal resuscitation for a baby born alive with little chance of survival. Religious beliefs and concerns about long-term pain for the baby were the most common reasons for not initiating neonatal resuscitation or withdrawing care for a baby born too premature or with congenital birth-defects. Most Mongolian healthcare providers provide antenatal counselling to parents regarding neonatal resuscitation. Additional research is needed to determine if the above-said difficulty with counselling stems from deficiencies in communication training and whether these same counselling-related issues exist in other countries. Future educational efforts in teaching neonatal resuscitation in Mongolia should incorporate culturally-sensitive training on antenatal counselling

First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia

Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia