Parenting styles and coping strategies in PKU early detected children

Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention may influence the parents and child bonding and the child´s resources to face problems. To describe the PKU parenting styles perceived by the children (PS) and their coping strategies (CS) assessing their relationship with impulsivity, 30 early diagnosed and adequately treated PKU children and 30 non PKU aged-paired controls (CG) were compared. The Argentine Children´s Coping Questionnaire, Argentine Scale Perception of the Relationship with Parents, WISC IV Comprehension Subtest, and CPT II test were administered. PKU PS were based on control: strict to pathologic in the mother and acceptable in the father (both p<0.05 vs. CG). Children significantly sought greater support and showed less emotional control when facing conflicts. These characteristics positively correlated with maternal control r:.383 and r:.398 (both p<0.05). Impulsivity was higher in PKU (p<0.05) but didn´t associate with PS or CS. Maternal strict control wasn´t linked to the higher impulsivity found (possibly neurobiologically based). Nevertheless, if both factors are present, patients may develop a psychological and/or behavioral trait of greater dependency and impulsivity that must be considered in their follow-up.Fil: Pardo Campos, Maria Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires". Facultad de Psicología y Psicopedagogía; ArgentinaFil: Enacan, Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Valle, Maria G.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

PKU: attention and executive profile in early detected and adequately treated patients

Antecedentes: Los pacientes fenilcetonúricos, incluso adecuadamente diagnosticados y tratados, pueden resultar con disfunción neurocognitiva. Objetivo: Evaluar la neurocognición de niños fenilcetonúricos y su relación con variables de la enfermedad y su tratamiento. Materiales y métodos: Estudio descriptivo y comparativo, expost-facto, transversal y prospectivo, efectuado del 2018 al 2019 en pacientes pediátricos con fenilcetonuria (grupo 1) de entre 9 y 11 años y un grupo control de niños sanos de la misma edad (grupo 2). Todos se evaluaron con una batería de pruebas para coeficiente intelectual y cognición. Resultados: Se estudiaron 30 niños con fenilcetonuria (18 varones y 12 niñas) (grupo 1) y 30 sin fenilcetonuria (grupo 2). EL coeficiente intelectual del grupo 1 fue normal, medio y menor al del grupo 2 (p < 0.01) con menor control ejecutivo asociado con la regulación de la impulsividad, la velocidad de procesamiento y la atención dividida y focalizada. En ambos grupos el coeficiente intelectual de ejecución y verbal fue normal promedio, con diferencias significativas en el coeficiente intelectual de ejecución, con un tamaño del efecto pequeño y sin diferencias significativas en el coeficiente intelectual verbal. Conclusión: Los niños fenilcetonúricos tuvieron repercusiones en las funciones cognitivas asociadas con el control ejecutivo y de atención. Evidenciaron vulnerabilidad de la función ejecutiva relacionada con el control de la enfermedad en la infancia.Background: Phenylketonuric patients, even properly diagnosed and treated, may result in neurocognitive dysfunction. Objetive: To evaluate neurocognition in phenylketonuric children and its relationship with disease variables and treatment. Materials and methods: Descriptive and comparative, expost-facto, cross-sectional, prospective study conducted from 2018 to 2019 in pediatric patients with phenylketonuria (group 1) aged 9 to 11 years and a control group of healthy children of the same age (group 2). All were assessed with a battery of tests for IQ and cognition. Results: Thirty children with phenylketonuria (18 boys and 12 girls) (group 1) and 30 without phenylketonuria (group 2) were studied. The IQ of group 1 was normal, average and lower than that of group 2 (p < 0.01) with lower executive control associated with impulsivity regulation, processing speed and divided and focused attention. In both groups, performance and verbal IQ were average normal, with significant differences in performance IQ, small effect size and no significant differences in verbal IQ. Conclusion: Phenylketonuric children had repercussions in cognitive functions associated with executive and attentional control. They evidenced vulnerability of executive function related to disease control in childhood.Fil: Pardo Campos, María. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires". Facultad de Psicología y Psicopedagogía. Centro de Investigaciones en Psicología y Psicopedagogía; Argentina. Fundacion de Endocrinologia Infantil.; ArgentinaFil: Enacan, Rosa. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Fundacion de Endocrinologia Infantil.; ArgentinaFil: Valle, Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentina. Fundacion de Endocrinologia Infantil.; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

Parenting syles and coping strategies in PKU early detected children

Abstract: Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention may influence the parents and child bonding and the child´s resources to face problems. To describe the PKU parenting styles perceived by the children (PS) and their coping strategies (CS) assessing their relationship with impulsivity, 30 early diagnosed and adequately treated PKU children and 30 non PKU aged-paired controls (CG) were compared. The Argentine Children´s Coping Questionnaire, Argentine Scale Perception of the Relationship with Parents, WISC IV Comprehension Subtest, and CPT II test were administered. PKU PS were based on control: strict to pathologic in the mother and acceptable in the father (both p<0.05 vs. CG). Children significantly sought greater support and showed less emotional control when facing conflicts. These characteristics positively correlated with maternal control r:.383 and r:.398 (both p<0.05). Impulsivity was higher in PKU (p<0.05) but didn´t associate with PS or CS. Maternal strict control wasn´t linked to the higher impulsivity found (possibly neurobiologically based). Nevertheless, if both factors are present, patients may develop a psychological and/or behavioral trait of greater dependency and impulsivity that must be considered in their follow-up

PKU: Attention and executive profile in early detected and adequately treated patients

Resumen: ANTECEDENTES: Los pacientes fenilcetonúricos, incluso adecuadamente diagnosticados y tratados, pueden resultar con disfunción neurocognitiva. OBJETIVO: Evaluar la neurocognición de niños fenilcetonúricos y su relación con variables de la enfermedad y su tratamiento. MATERIALES Y MÉTODOS: Estudio descriptivo y comparativo, expost-facto, transversal y prospectivo, efectuado del 2018 al 2019 en pacientes pediátricos con fenilcetonuria (grupo 1) de entre 9 y 11 años y un grupo control de niños sanos de la misma edad (grupo 2). Todos se evaluaron con una batería de pruebas para coeficiente intelectual y cognición. RESULTADOS: Se estudiaron 30 niños con fenilcetonuria (18 varones y 12 niñas) (grupo 1) y 30 sin fenilcetonuria (grupo 2). EL coeficiente intelectual del grupo 1 fue normal, medio y menor al del grupo 2 (p < 0.01) con menor control ejecutivo asociado con la regulación de la impulsividad, la velocidad de procesamiento y la atención dividida y focalizada. En ambos grupos el coeficiente intelectual de ejecución y verbal fue normal promedio, con diferencias significativas en el coeficiente intelectual de ejecución, con un tamaño del efecto pequeño y sin diferencias significativas en el coeficiente intelectual verbal. CONCLUSIÓN: Los niños fenilcetonúricos tuvieron repercusiones en las funciones cognitivas asociadas con el control ejecutivo y de atención. Evidenciaron vulnerabilidad de la función ejecutiva relacionada con el control de la enfermedad en la infancia.Abstract: BACKGROUND: Phenylketonuric patients, even properly diagnosed and treated, may result in neurocognitive dysfunction. OBJECTIVE: To evaluate neurocognition in phenylketonuric children and its relationship with disease variables and treatment. MATERIALS AND METHODS: Descriptive and comparative, expost-facto, cross-sectional, prospective study conducted from 2018 to 2019 in pediatric patients with phenylketonuria (group 1) aged 9 to 11 years and a control group of healthy children of the same age (group 2). All were assessed with a battery of tests for IQ and cognition. RESULTS: Thirty children with phenylketonuria (18 boys and 12 girls) (group 1) and 30 without phenylketonuria (group 2) were studied. The IQ of group 1 was normal, average and lower than that of group 2 (p < 0.01) with lower executive control associated with impulsivity regulation, processing speed and divided and focused attention. In both groups, performance and verbal IQ were average normal, with significant differences in performance IQ, small effect size and no significant differences in verbal IQ. CONCLUSION: Phenylketonuric children had repercussions in cognitive functions associated with executive and attentional control. They evidenced vulnerability of executive function related to disease control in childhood

Biallelic Stop Codon Mutations (p.F353Pfs*36/p.Y425X) in DUOX2 Gene Associated with Transient Congenital Hypothyroidism: Report of a Family and Literature Review

Purpose: DUOX2 deficiency is a transient or permanent disorder that results in thyroid dyshormonogenesis. The purpose of this study was to identify and characterize new mutations in the DUOX2 gene in an attempt to increase the understanding of genotype-phenotype correlation for this disorder. The current study summarizes also the spectrum of DUOX2 variations reported to date in the literature. Methods: Two siblings from an nonconsanguineous family with clinical and biochemical criteria suggestive of transient CH were studied. Single-Strand Conformation Polymorphism (SSCP) analysis and sequencing of DNA of TPO and DUOX2 genes were performed. Results: Sequencing analysis of DUOX2 gene revealed two inactivating mutations, a novel c.1057_1058delTT mutation (p.F353Pfs*36, father’s mutation) and a possible previously reported c.1275T>G mutation (p.Y425X, mother’s mutation). Consequently, the two siblings carry a compound heterozygous for p.F353Pfs*36/ p.Y425X mutations, whereas the healthy brother is heterozygous for the c.1275T>G mutation and does not carry the c.1057_1058delTT mutation. Up to date, hundred twenty pathogenic variations and functional single nucleotide polymorphisms in the human DUOX2 gene have been reported associated with transient or permanent CH: 78 missense mutations, 11 nonsense mutations, 26 deletions and insertions, and 6 splice site mutations. The transient or persistent variability of the CH phenotype is not directly related to the number of mutant DUOX2 alleles. Pathogenic DUOX2 mutations were identified together with likely pathogenic variants in the TSHR, DUOXA2, Thyroid peroxidase, Thyroglobulin and SLC26A4 genes. Conclusion: In the present study, we have identified a novel p.F353Pfs*36 mutation in peroxidase like domain of DUOX2 and we have confirmed that total loss of DUOX2 activity by biallelic premature termination codon causes transient CH phenotype.Fil: Belforte, Fiorella Sabrina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Olcese, María Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Siffo, Sofía. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Papendieck, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Enacan, Rosa E.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Gruñeiro-Papendieck, Laura. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños ; ArgentinaFil: Rivolta, Carina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentin

Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2-7 days. Those with T4 ≤4.5 μg/dL (-2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.Fil: Braslavsky, Debora Giselle. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Méndez, María Virginia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Pérez Prieto, Laura María. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Keselman, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; ArgentinaFil: Enacan, Rosa. Fundación de Endocrinología Infantil; ArgentinaFil: Gruñeiro Papendieck, Laura. Fundación de Endocrinología Infantil; ArgentinaFil: Jullien, Nicolas. Aix-Marseille Université; Francia. Centre National de la Recherche Scientifique; FranciaFil: Savenau, Alexandru. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; FranciaFil: Reynaud, Rachel. Aix-Marseille Université; Francia. Hôpitaux de Marseille; Francia. Centre National de la Recherche Scientifique; FranciaFil: Brue, Thierry. Aix-Marseille Université; Francia. Hôpital de la Conception; Francia. Centre National de la Recherche Scientifique; FranciaFil: Bergadá, Ignacio. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fundación de Endocrinología Infantil; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentina. Fundación de Endocrinología Infantil; Argentin