RESUMEN
Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive and motor disability due to cerebral hypothyroidism. 3,3',5-triiodothyroacetic acid (Triac) was shown to improve peripheral thyrotoxicosis but data on neurodevelopmental outcome are scarce. We present a case of MCT8 deficiency and the experience with Triac focusing on change in neurodevelopmental and peripheral features. A five-month-old boy was referred because of feeding difficulty, central hypotonia and global developmental delay. Despite six months of physiotherapy, physical developmental milestones did not improve, and distal muscle tone was increased. A hemizygous pathogenic variant in SLC16A2 was found and MCT8 deficiency was confirmed at 19-months. Thyroid stimulating hormone was 2.83 mIU/mL, free thyroxine 6.24 pmol/L (N=12-22) and free triiodothyronine (FT3) 15.65pmol/L (N=3.1-6.8). He had tachycardia, blood pressure and transaminases were elevated. Triac was started at 21-months. Two weeks after treatment, FT3 dramatically decreased, steady normal serum FT3 was achieved at 28-months. Assessment of neurodevelopmental milestones and signs of hyperthyroidism were evaluated at baseline, 6 months and 12 months after treatment. Signs of hyperthyroidism were improved by 6 months. Developmental composite scores of Bayley Scales of Infant Developmental 3rd Edition remained the same but important developmental milestones (head control, recognition of caregiver, response to his name) were attained, regression in the attained milestones were not observed. Initial dose, management protocol for Triac and research into its efficacy on neurodevelopmental signs in MCT8 deficiency are progressing. This case presents evidence that Triac may resolve peripheral thyrotoxicosis successfully and may slow neurodevelopmental regression, while some developmental milestones were achieved after one year of treatment.
Asunto(s)
Personas con Discapacidad , Hipertiroidismo , Discapacidad Intelectual Ligada al Cromosoma X , Trastornos Motores , Simportadores , Tirotoxicosis , Triyodotironina/análogos & derivados , Masculino , Lactante , Humanos , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/tratamiento farmacológico , Hipotonía Muscular/genética , Discapacidad Intelectual Ligada al Cromosoma X/diagnóstico , Atrofia Muscular/diagnóstico , Atrofia Muscular/tratamiento farmacológico , Atrofia Muscular/genética , Transportadores de Ácidos Monocarboxílicos/genética , Transportadores de Ácidos Monocarboxílicos/uso terapéutico , Simportadores/genética , Simportadores/uso terapéuticoRESUMEN
OBJECTIVE: Crucial information is lacking on unmet needs of children with rare inherited metabolic disorders during the coronavirus disease 2019 pandemic from low- and middle-income countries. We aimed to identify the unmet needs of children with rare inherited metabolic disorders from Turkey. MATERIALS AND METHODS: In a cross-sectional observational design, all children with rare inherited metabolic disorders aged 0-18 years followed at Ankara University School of Medicine Department of Pediatrics Pediatric Metabolism Division were recruited and interviewed via phone calls. The Expanded Guide for Monitoring Child Development enabled assessment of unmet needs and environmental context during coronavirus disease 2019 pandemic. Step-wise logistic regression analysis was used to determine independent factors associated with unmet needs. RESULTS: The sample comprised 229 children (54.1% boys) with rare inherited metabolic disorders (36.7% diet-dependent disorders). Most common diagnoses were amino acid metabolism disorders (40.2%). Of all, 29.3% of the mothers reported depression, 25.3% loss of job of family members during the pandemic. All children had unmet needs: at least 73.0% in health care, 96.8% in education, 78.3% in special services/rehabilitation. Having significant developmental delay and/or disability (odds ratio = 2.31, 95% CI: 1.14-4.67) emerged as the only independent factor associated with unmet needs in health care. CONCLUSION: Children with rare inherited metabolic disorders and their families in Turkey experience unmet needs in many domains during coronavirus disease 2019 pandemic. Urgent action is needed to address the unmet needs of children with rare inherited metabolic disorders, especially those who has significant developmental delays and/or disabilities for this pandemic and possible future crisis.
RESUMEN
OBJECTIVE: To inform professionals pioneering developmental-behavioral pediatrics (DBP) services in low- and middle-income countries (LMICs), we aimed to examine referral trends in 2 pioneering DBP centers at different locations in Turkey and to ascertain whether the official establishment of DBP as a subspecialty affected these trends. METHOD: This longitudinal observational study included all children referred to Ankara (AUDPD) and Inonu (IUDPD) Universities' Developmental Pediatrics Divisions between 2010 and 2018. We examined the sources of referrals and the independent effects of time and the establishment of DBP as a subspecialty on referral volume using Negative Binomial Regression (NBR) models. RESULTS: Of 8,051 children, most were boys (58%) and under 24 months of age (72%). Most referrals were from the pediatric and pediatric surgery department clinics (85%); less than 1% were from child and adolescent psychiatry, and none were from family physicians. The NBR models showed that yearly, the referral volume increased significantly, 1.18-fold (95% confidence interval [CI] = 1.09-1.28) and 1.48-fold (95% CI = 1.20-1.82) for AUDPD and IUDPD, respectively. Compared with the trend of referrals before, the trend after the establishment of DBP as a subspecialty increased significantly at AUDPD, but not IUDPD. CONCLUSION: The increase in referrals to DBP over time is encouraging to professionals working to advance DBP services and training in LMICs even if DBP is not officially established as a subspecialty. Additional efforts may be needed to improve recognition and use of DBP services by community physicians and allied disciplines that provide services to children.
Asunto(s)
Médicos de Familia , Derivación y Consulta , Adolescente , Niño , Humanos , Masculino , Pobreza , TurquíaRESUMEN
Background/aim: Physicians require information on the family centeredness of services for children with Down syndrome, one of the most frequently encountered disabilities in childhood. We aimed to determine the family-centeredness of services for young children with Down syndrome and using a bioecological theory framework we hypothesized that child, family and service-related factors would be associated with such services. Materials and methods: In a crosssectional design, children with Down syndrome seen at Ankara University Developmental Pediatrics Division (AUDPD) between February 2020 and June 2020 were included if they had received services in the community for at least 12 months. Mothers responded to the measure of process of care-20 (MPOC-20) used to measure family centeredness. Results: All 65 eligible children were included; 57% were boys and median age was 25.0 (IQR: 18.538.0) months. The MPOC-20 subscale scores were highest for the "respectful and supportive care (RSC)" (median 6.0; IQR: 4.86.8) and lowest for the "providing specific information" (median 3.0; IQR: 4.46.5) subscales. On univariate analyses, maternal education Asunto(s)
Niños con Discapacidad
, Síndrome de Down
, Educación Especial
, Salud de la Familia/normas
, Rehabilitación Psiquiátrica
, Logopedia
, Adulto
, Preescolar
, Estudios Transversales
, Niños con Discapacidad/educación
, Niños con Discapacidad/psicología
, Niños con Discapacidad/rehabilitación
, Síndrome de Down/epidemiología
, Síndrome de Down/psicología
, Síndrome de Down/terapia
, Educación Especial/métodos
, Educación Especial/estadística & datos numéricos
, Escolaridad
, Femenino
, Necesidades y Demandas de Servicios de Salud
, Humanos
, Masculino
, Evaluación de Procesos, Atención de Salud/métodos
, Evaluación de Procesos, Atención de Salud/estadística & datos numéricos
, Rehabilitación Psiquiátrica/métodos
, Rehabilitación Psiquiátrica/estadística & datos numéricos
, Bienestar Social/estadística & datos numéricos
, Factores Socioeconómicos
, Logopedia/métodos
, Logopedia/estadística & datos numéricos
, Turquía/epidemiología
RESUMEN
Kanik Yüksek S, Tezer H, Özkaya Parlakay A, Gülhan B, Kara A, Çiftçi E, Tapisiz A, Çelik M, Özdemir H, Aykaç K, Demirdag TB, Tural Kara T, Hayran G, Ince E. Impact of the mandatory Hepatitis A immunization program: before and after the vaccine in Ankara, Central of Turkey. Turk J Pediatr 2019; 61: 677-685. In Turkey Hepatitis A virus (HAV) infection is considered to be moderateendemic. Hepatitis A vaccine was included in the mandatory vaccination schedule of Turkey on November 2012. We aimed to evaluate the cases of HAV infection followed in Ankara, which is located in the center of Central Anatolia, retrospectively according to the date of the administration of the mandatory hepatitis A vaccine. A total of 272 children followed-up between January 2008 and December 2015 for HAV infection in five separate hospitals were enrolled to the study. There were 200 (68.2%) cases in the pre-vaccination group, 72 (31.74%) cases in the post-vaccination group, and 55.1% were male in total. The immunization status were as follow; 89.7% (n = 244) unvaccinated, 0.4% (n = 1) vaccinated and 9.9% (n = 27) with unknown immune status. There was a statistically significant difference between the groups in hospitalization rates, but no statistically significant differences in hospitalization indications, length of hospital stay, complication types and proportions, and normalization period of transaminases. The national hepatitis A immunization program in Turkey has had a significant impact when the targeted population is considered, with suggestive herd protection effects.