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1.
J Reprod Infant Psychol ; : 1-14, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38627925

RESUMO

AIM/BACKGROUND: Both mental maternal health and breastfeeding difficulties impact maternal and infant health. The present study analyses the association between psychosocial and breastfeeding variables and maternal mental health. DESIGN/METHODS: The participants were 107 first-time mothers from Chile. Sociodemographic variables and breastfeeding difficulties were assessed at 6 weeks postpartum. Depression and anxiety symptoms, parental self-efficacy, and perceived social support were measured using validated, self-report questionnaires at 6 weeks and 5 months postpartum. This study is a secondary analysis of an intervention trial. RESULTS: 76% of the women reported having experienced some breastfeeding difficulty in the first postpartum weeks. The number of breastfeeding difficulties was associated with maternal mental health symptoms at 6 weeks postpartum and parental self-efficacy at both assessment times. Women who did not experience breastfeeding difficulties presented significantly fewer depressive (t(102) = 2.5, p = .015) and anxiety symptoms (t(50) = 2.3, p = .028) at 6 weeks postpartum than those who did. Mothers who exclusively breastfed at 5 months postpartum presented significantly higher parental self-efficacy (t(94) = 2.4, p = .044). A higher number of breastfeeding difficulties and low perceived social support contributed to higher depressive symptoms (R2 = .30; F(3,103) = 14.6, p < .001), anxiety symptoms (R2 = .32, F(3.103) = 17.27, p < .001) and lower parental self-efficacy at 6 weeks postpartum (R2 = .39; F(2,103) = 9.4, p < .001). CONCLUSION: Breastfeeding difficulties and social support are associated with fewer mental health symptoms and higher parental self-efficacy during early postpartum in first-time mothers.

2.
J Pediatr Psychol ; 49(4): 266-278, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38070171

RESUMO

OBJECTIVE: Internet-based interventions may positively impact maternal symptoms of postnatal depression and anxiety. This study assessed the feasibility, acceptability, perceived usefulness, and preliminary effectiveness of an m-Health version of "What Were We Thinking?" (m-WWWT). METHODS: A mixed-methods with a 2-arm randomized parallel design was used. From a total of 477 women, 157 met the inclusion criteria. 128 first-time mothers of full-term infants, aged 4-10 weeks, who received health care at primary public health centers in Chile, were randomly assigned to the experimental (EG, n = 65) or control (CG, n = 63) groups; data of 104 of them (53 and 51, respectively) was analyzed. We used percentages and rates to measure feasibility outcomes and mixed analysis of variance (ANOVA) and latent class analyses (LCA) to assess preliminary effectiveness. Participants completed questionnaires on mental health, social support, and maternal self-efficacy upon recruitment and 3 months after completing the intervention. For the qualitative component, 12 women from the EG were interviewed. RESULTS: Quantitative results show good feasibility outcomes, such as high recruitment (82%), low attrition (EG = 12% and CG = 17%), and high follow-up (EG = 97% and CG = 91%) rates. Qualitative results indicate high acceptability and perceived usefulness of m-WWWT. Mixed ANOVA did not show significant differences between the groups (all p >.05). However, multinomial regression analysis in LCA showed that women with low baseline symptoms of depression and anxiety benefit from the intervention (B = 0.43, 95% confidence interval 1.09-2.16). CONCLUSION: m-WWWT is feasible to be implemented in Chile; future studies are needed to assess the intervention's effectiveness.


Assuntos
Depressão Pós-Parto , Intervenção Baseada em Internet , Humanos , Feminino , Depressão Pós-Parto/terapia , Depressão Pós-Parto/psicologia , Depressão/psicologia , Chile , Estudos de Viabilidade , Ansiedade/psicologia
3.
Andes Pediatr ; 94(3): 370-378, 2023 Jun.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37909940

RESUMO

The deterioration of mental health in the general population has been one of the main consequences of the COVID-19 health crisis, with differences in diverse groups. Specifically, recent studies report an increased risk for the development of symptoms of anxiety and depression during the perinatal period, as well as a negative impact on the newborn. OBJECTIVE: The objective of this study was to examine the differences in mental health, infant and obstetric variables, and childbirth experience in the public and private health systems in Chilean primiparous women before and during the CO- VID-19 pandemic. SUBJECTS AND METHOD: This quantitative study compared two cohorts. The first one included mothers with babies born before the COVID-19 pandemic (N = 81) and the second one involved mothers who delivered during the pandemic (N = 71). Sociodemographic and obstetric history, depression, anxiety, and stress were evaluated in both groups using self-report questionnaires (EPDS, DASS-21). Differences between groups were assessed with ANCOVA, t-tests, and chi-square tests. RESULTS: Women who delivered during the pandemic reported greater depressive symptoms and their babies were smaller and had less weeks of gestation than babies born before the COVID-19 pandemic. However, this group maintained exclusive breastfeeding for a longer period. There were no differences in the experience of childbirth between the groups, but there were differences in relation to the public or private nature of the hospital where the mothers were seen. CONCLUSIONS: The pandemic negatively affected the mental health of mothers, posing significant challenges to promoting the emotional well-being of mothers and their infants.


Assuntos
COVID-19 , Saúde Mental , Lactente , Recém-Nascido , Gravidez , Humanos , Feminino , Pandemias , COVID-19/epidemiologia , Ansiedade/epidemiologia , Ansiedade/etiologia , Mães
4.
Cir. Esp. (Ed. impr.) ; 101(6): 435-444, jun. 2023. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-222019

RESUMO

Introducción: Los pólipos complejos requieren el uso de técnicas endoscópicas avanzadas o la cirugía mínimamente invasiva para su abordaje. En los pólipos rectales es de especial relevancia llegar a un consenso de cuál es el mejor abordaje de estos para evitar infratratamientos o sobretratamientos que incrementen una morbimortalidad innecesaria. Métodos: Se describe un ensayo clínico piloto con un producto sanitario de primer uso en humanos multicéntrico y prospectivo. Se plantea la hipótesis que UNI-VEC® facilita la cirugía laparoendoscópica transanal para la extirpación de tumores rectales precoces. El objetivo principal es evaluar que es seguro y cumple los requisitos funcionales establecidos. Los secundarios son evaluar resultados, complicaciones y nivel de satisfacción.Resultados: Se reclutaron 16 pacientes en 12 meses con un seguimiento mínimo de dos meses. El tamaño medio ha sido de 3,4 cm, siendo el pólipo mayor de 6 cm. Respecto a la localización, la media se encontraba a 6,6 cm del margen anal. Se realizó resección endoscópica mucosa (REM) (6,3%), disección submucosa endoscópica (DSE) (43,8%), resección espesor completo (REC) (6,3%) y transanal minimally invasive surgery (TAMIS) (43,8%). El tiempo medio fueron 73,25 min; 56,3% utiliza una cámara de 30̊ y 43,8% el endoscopio flexible como instrumento de visión. El 56,3% son lesiones benignas y 43,8% malignas. En 87,5% se consigue resección completa. En cuanto a las complicaciones, se presenta sangrado leve (Clavien I) en 25, 6,3 y 21,4% a las 24 h, 48 h y siete días, respectivamente. La continencia se valora según la Escala de Wexner. A los siete días, 60% presentan continencia perfecta, 26,7% IF leve y 13,3% IF moderada. A los 30 días, 66,7% continencia perfecta, 20% IF leve y 13,3% IF moderada. A los dos meses se revisan cuatro de los pacientes que a los 30 días presentaban un Wexner superior al preoperatorio y se demuestra continencia perfecta en 25% de los pacientes, 50% leve y 25% moderada. (AU)


Introduction: Complex polyps require the use of advanced endoscopic techniques or minimally invasive surgery for their approach. In rectal polyps it is of special relevance to reach a consensus on the best approach to avoid under- or overtreatment that increases unnecessary morbidity and mortality. Methods: We describe a prospective, multicenter, pilot clinical trial with a first-in-human medical device. It is hypothesized that UNI-VEC® facilitates transanal laparoendoscopic surgery for the removal of early rectal tumors. The primary objective is to evaluate that it is safe and meets the established functional requirements. Secondary objectives are to evaluate results, complications and level of satisfaction. Results: Sixteen patients were recruited in 12 months with a minimum follow-up of 2 months. The mean size was 3.4 cm with the largest polyp being 6 cm. Regarding location, the mean was 6.6 cm from the anal margin. Endoscopic mucosal resection (EMR) (6.3%), endoscopic submucosal dissection (ESD) (43.8%), REC (6.3%) and TAMIS (43.8%) were performed. The mean time was 73.25 min. The 56.3% used a 30° camera and 43.8% used the flexible endoscope as a viewing instrument. The 56.3% were benign lesions and 43.8% malignant. Complete resection is achieved in 87.5%. Regarding complications, mild bleeding (Clavien I) occurred in 25%, 6.3% and 21.4% at 24 h, 48 h and 7 days, respectively. Continence was assessed according to the Wexner scale. At 7 days, 60% showed perfect continence, 26.7% mild FI and 13.3% moderate FI. At 30 days, 66.7% had perfect continence, 20% mild FI and 13.3% moderate FI. At 2 months, 4 patients were reviewed who at 30 days had a Wexner's degree higher than preoperative and perfect continence was demonstrated in 25% of the patients, 50% mild and 25% moderate. (AU)


Assuntos
Humanos , Pólipos/cirurgia , Neoplasias Retais , Procedimentos Cirúrgicos Minimamente Invasivos , Cirurgia Endoscópica Transanal , Procedimentos Cirúrgicos Robóticos , Espanha
5.
J Reprod Infant Psychol ; 41(3): 275-288, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-34672883

RESUMO

PROBLEM: Childbirth experience can have long-lasting effects on maternal wellbeing. BACKGROUND: Positive childbirth experiences may strengthen maternal self-confidence, in contrast, negativeexperiences may promote a sense of failure or distrust. AIM: To examine the contribution of maternal hospital childbirth experience on mental health at 6 months postpartum in a community-based, Chilean sample. An additional aim is to examine which childbirth-related aspects contribute to the global birth experience. METHODS: One hundred and forty-eight women completed self-report measures of mental health during the third trimester of pregnancy and 3 and 6 months postpartum. At 3months after childbirth, subjective childbirth experience was assessed. Logistic regression analysis examined the contribution of childbirth experience to maternal mental health. FINDINGS: Negative subjective experience of childbirth contributes to maternal depression and anxiety up to 6 months after childbirth, controlling for mental health during pregnancy and at 3 months postpartum. Quality of care from health professionals made the largest, statistically significant contribution to the global perception of childbirth. DISCUSSION AND CONCLUSIONS: Subjective experience of childbirth is a modifiable risk factor for the development of postpartum maternal depression and anxiety. Health providers in direct contact with childbearing women may promote maternal emotional wellbeing through sensitive and respectful care.


Assuntos
Depressão Pós-Parto , Saúde Mental , Gravidez , Feminino , Humanos , Parto/psicologia , Período Pós-Parto/psicologia , Depressão Pós-Parto/psicologia , Parto Obstétrico
6.
Cir Esp (Engl Ed) ; 101(6): 435-444, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36565988

RESUMO

INTRODUCTION: Complex polyps require the use of advanced endoscopic techniques or minimally invasive surgery for their approach. In rectal polyps it is of special relevance to reach a consensus on the best approach to avoid under- or overtreatment that increases unnecessary morbidity and mortality. METHODS: We describe a prospective, multicenter, pilot clinical trial with a first-in-human medical device. It is hypothesized that UNI-VEC® facilitates transanal laparoendoscopic surgery for the removal of early rectal tumors. The primary objective is to evaluate that it is safe and meets the established functional requirements. Secondary objectives are to evaluate results, complications and level of satisfaction. RESULTS: 16 patients were recruited in 12 months with a minimum follow-up of 2 months. The mean size was 3.4 cm with the largest polyp being 6 cm. Regarding location, the mean was 6.6 cm from the anal margin. Endoscopic Mucosal Resection (EMR) (6.3%), Endoscopic Submucosal Dissection ESD (43.8%), REC (6.3%) and TAMIS (43.8%) were performed. The mean time was 73.25 min. The 56.3% used a 30° camera and 43.8% used the flexible endoscope as a viewing instrument. The 56.3% were benign lesions and 43.8% malignant. Complete resection is achieved in 87.5%. Regarding complications, mild bleeding (Clavien I) occurred in 25%, 6.3% and 21.4% at 24 h, 48 h and 7 days respectively. Continence was assessed according to the Wexner scale. At 7 days, 60% showed perfect continence, 26.7% mild FI and 13.3% moderate FI. At 30 days, 66.7% had perfect continence, 20% mild FI and 13.3% moderate FI. At 2 months, 4 patients were reviewed who at 30 days had a Wexner's degree higher than preoperative and perfect continence was demonstrated in 25% of the patients, 50% mild and 25% moderate. In no case did rectal perforation or major complications requiring urgent reintervention occur. As for the level of reproducibility, safety, level of satisfaction with the device and evaluation of the blister, the evaluation on a scale of 0-10 (9.43, 9.71, 9.29 and 9.50 respectively). All the investigators have previous experience with transanal devices. CONCLUSIONS: The study demonstrates the efficacy and safety of UNI-VEC® for the treatment of rectal lesions. It will facilitate the implementation of hybrid procedures that seek to solve the limitations of pure endoscopic techniques by allowing the concomitant use of conventional laparoscopic and robotic instrumentation with the flexible endoscope.


Assuntos
Laparoscopia , Neoplasias Retais , Humanos , Estudos Prospectivos , Reprodutibilidade dos Testes , Neoplasias Retais/cirurgia , Neoplasias Retais/patologia , Reto/cirurgia , Reto/patologia
7.
Ansiedad estrés ; 28(1): 40-46, jan.-apr. 2022. tab
Artigo em Espanhol | IBECS | ID: ibc-203067

RESUMO

Background and Aim: Maternal mental health difficulties during the perinatal period are prevalent and have a negative impact on both women and their infants. Universal perinatal mental health screening has focused primarily on symptoms of depression, with limited attention given to anxiety, despite its high prevalence. This is partly due to the lack of valid maternal anxiety symptom screening tools. The aim of this study was to assess the factor structure, validity, and reliability of the Spanish version of the Perinatal Anxiety Screening Scale.Participants and Method: 265 women participated in the study, 138 of them were assessed during their third trimester of pregnancy and 127 at 3 months postpartum. An Exploratory Factor Analysis was used to examine the factor structure of the PASS, the number of factors was determined using a Velicer MAP test. Results: A four-factor solution was obtained, which slightly differed from the original version of the instrument. High reliability for the subscales and the global score, as well as adequate validity, and test-retest reliability were observed. Conclusions: The Spanish version of the Perinatal Anxiety Screening Scale has good psychometric properties, which warrants its use in Chile. Future studies are needed to assess the validity of the instrument in other Latin-American contexts.


Antecedentes y objetivo: Las dificultades de salud mental materna durante el periodo perinatal son prevalentes y tienen graves consecuencias para las madres y sus bebés. Las iniciativas de pesquisa temprana se han centrado en la sintomatología depresiva y han puesto menor atención a los síntomas de ansiedad, pese a su alta prevalencia. Uno de los factores que contribuye a la escasez de protocolos para la pesquisa de sintomatología ansiosa es la falta de instrumentos validados para tal fin. El objetivo de esta investigación fue evaluar la estructura factorial, validez concurrente y confiabilidad de la Escala de Ansiedad Perinatal, desarrollada para facilitar la pesquisa de sintomatología ansiosa en mujeres embarazadas y puérperas. Participantes y métodos: Las participantes fueron 265 mujeres, 138 de las cuales fueron evaluadas durante el tercer trimestre de gestación y 127, a los 3 meses postparto. La estructura factorial del instrumento fue analizada mediante un Análisis Factorial Exploratorio, el número de factores se definió con el test MAP de Velicer. Resultados: Se obtuvo una solución de cuatro factores con algunas diferencias en relación a la escala original. Se observó una alta consistencia interna para las subescalas del instrumento y para el puntaje global, además de una adecuada validez concurrente y confiabilidad test-retest. Conclusiones: Se concluye que la versión en español de la Escala de Ansiedad Perinatal posee características psicométricas adecuadas para su uso en Chile. Futuros estudios son requeridos para evaluar la validez de este instrumento en otros contextos latinoamericanos.


Assuntos
Humanos , Feminino , Ciências da Saúde , Assistência Perinatal , Bem-Estar Materno , Depressão , Cuidado Pré-Natal/psicologia , Ansiedade/diagnóstico , Ansiedade/psicologia
8.
J Reprod Infant Psychol ; 40(1): 3-21, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-33012169

RESUMO

PURPOSE: Symptoms of depression and anxiety during the perinatal period have a negative impact on mothers and their developing children. A significant body of research has demonstrated an association between mental health and both individual and interpersonal emotion regulation. Yet, this association has not been studied during the perinatal period. The aim of this study was to explore the association between emotion regulation, maternal mental health, and interpersonal emotion regulation during the transition to motherhood in a sample of Chilean women. METHODS: Women in their third trimester of pregnancy (n = 253) provided self-reports of emotion regulation and symptoms of depression and anxiety during pregnancy and three months postpartum. Additional self-reports of interpersonal emotion regulation were obtained from individuals who were identified as social support persons by these women. Results: Maternal emotion regulation contributed to maternal symptoms of depression and anxiety during pregnancy and after childbirth. The association between emotion regulation and maternal mental health was moderated by specific interpersonal emotion regulation strategies reported by the participant's social support persons. Strategies including modulating the emotional response, situation modification, attentional deployment and cognitive change, modified the association between poor regulation strategies and anxiety symptoms. Also, an infrequent use of these interpersonal emotion regulation strategies strengthened the association between these maternal emotional regulation difficulties and anxiety symptoms. CONCLUSION: Our findings suggest that interpersonal emotional regulation strategies impact the association of maternal emotional regulation strategies and maternal emotional wellbeing.


Assuntos
Regulação Emocional , Ansiedade , Criança , Depressão , Feminino , Humanos , Saúde Mental , Mães , Gravidez
9.
J Reprod Infant Psychol ; 39(3): 276-287, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-31847567

RESUMO

Objective: The aim of this study was to culturally adapt What Were We Thinking (WWWT), an Australian psychoeducational intervention to prevent symptoms of depression and anxiety among first-time mothers, to be used in the Chilean primary health system.Background: Mental health symptoms are common in first-time mothers. Despite the availability of effective screening and referral in the Chilean primary health system, very few women access treatment due to diverse barriers. This highlights the importance of using a preventive approach. The evidence that culturally-adapted, evidence-based preventive programmes can reduce maternal mental health problems supports the development of this study.Methods: WWWT materials were translated into Spanish. Cultural Adaptation and field testing were conducted following the Cultural Adaptation Model.Results: Modifications to the intervention included adding an explicit infant mental health approach, a simplification of written information, and changes in the number and duration of the sessions. The adapted version of WWWT was considered understandable and relevant for local perinatal mental health specialists, new mothers and their partners.Conclusion: The Spanish version of WWWTis a culturally sensitive intervention, its potential for effective use in the Chilean context warrants further investigation. Limitations and implications for future studies are discussed.


Assuntos
Depressão Pós-Parto , Ansiedade/prevenção & controle , Transtornos de Ansiedade , Austrália , Depressão Pós-Parto/prevenção & controle , Feminino , Humanos , Lactente , Mães , Gravidez
10.
Breastfeed Med ; 15(8): 495-500, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32522015

RESUMO

Objective: Maternal mental health difficulties are common during the perinatal period and have a negative impact on breastfeeding practices. Most research has focused on the role of postpartum depression, whereas maternal anxiety has been less studied, despite its high prevalence. A better understanding of the mental health variables that impact breastfeeding practices is necessary to support maternal and infant health and well-being. The aim of this study is to explore the association between breastfeeding practices and maternal mental health, with an emphasis on maternal anxiety. Materials and Methods: Two hundred twenty-nine women were followed from the third trimester of gestation to 3 and 6 months postpartum. The participants provided self-reports of depression, anxiety, and breastfeeding practices. Mental health symptoms were compared between participants who reported exclusive versus mixed breastfeeding at 3 months postpartum, and between mothers who maintained breastfeeding versus those who had weaned their infants at 6 months postpartum. Logistic regression analysis was used to explore the variables contributing to breastfeeding practices. Results: High levels of depressive symptoms during pregnancy were associated to nonexclusive breastfeeding at 3 months postpartum. At 3 months postpartum, both high levels of anxiety and depression were associated with nonexclusive breastfeeding at that time. Logistic regression analyses revealed that exclusive breastfeeding at 3 months postpartum predicted breastfeeding continuation at 6 months after childbirth. Conclusion: Both maternal depression and anxiety negatively impact breastfeeding practices. Early identification of maternal mental health problems during the perinatal period is relevant to promote maternal emotional well-being and to prevent breastfeeding difficulties.


Assuntos
Ansiedade/complicações , Aleitamento Materno/psicologia , Depressão/complicações , Mães/psicologia , Adolescente , Adulto , Ansiedade/epidemiologia , Aleitamento Materno/estatística & dados numéricos , Depressão/epidemiologia , Depressão Pós-Parto/epidemiologia , Feminino , Humanos , Lactente , Saúde Mental , Período Pós-Parto , Gravidez , Testes Psicológicos
11.
Mol Genet Metab Rep ; 13: 90-94, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29021962

RESUMO

There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For the first time, long-term metabolic control and child development and cognitive functioning is compared between children with mean phenylalanine concentrations under 240 µmol/L (group A), between 240 and 360 µmol/L (group B) or over 360 µmol/L (group C) during their first year of life. METHODS: 70 patients diagnosed with PKU through neonatal screening with Phe > 900 µmol/L, were divided into 3 groups: A, B and C, according to mean Phe concentrations and standard deviation (SD). Metabolic control during childhood, psychomotor development and IQ were compared. RESULTS: In group A, Phe was maintained within the recommended range until 6 years of age, in Group B, until 3 years of age, and in group C, Phe was always over the recommended range. No significant differences were found between the three groups in mental development index (MDI) and motor development index (PDI) scores at 12, 24, and 30 months of age, but group C had the lowest scores on MDI at all age periods. At preschool and school age, IQ was higher in group A compared to group C. CONCLUSION: Results show that mean blood Phe concentrations between 120 and 240 µmol/L during first year of life have a positive impact in metabolic control and cognitive functioning during childhood.

12.
Mol Genet Metab Rep ; 11: 54-58, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28491816

RESUMO

INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive disorder characterized by a deficiency in phenylalanine (Phe) hydroxylase activity. Early diagnosis and continuous treatment with a low Phe diet prevents severe neurological and cognitive impairment. AIMS: 1. Analyze how treatment adherence evolves through infancy, childhood, and early adolescence in individuals with PKU. 2. Identify early signs of treatment discontinuation. METHODOLOGY: This longitudinal, retrospective study included 75 children diagnosed through newborn screening, ages 7 to 13 years. Data on blood Phe concentration, number of blood samples sent, proportion of samples with Phe concentrations over the recommended range, and number of visits to the metabolism clinic were recorded. Logistic regression analysis was used to identify the variables that predict treatment discontinuation before 13 years of age. RESULTS: A progressive increase in mean blood Phe concentrations with age was identified. The greatest increase occurred between the first and second years of life. By age ten, mean Phe blood concentration of the group was above the recommended range. The proportion of samples with Phe concentrations over the recommended range also increased with age, from an average of 13% during the first year of life to 67% in early adolescence. Sixty-eight percent of the children attended the outpatient clinic and sent samples from birth to the time of the study. Individuals who discontinued follow-up showed significantly higher mean blood Phe concentrations (360 vs. 220.9 µmol/L; p = 0.004) and the proportion of samples over the recommended range (37% vs. 12% p = 0.002) was significantly higher during the second year of life. Mean age for children who discontinued treatment was 5.5 years of age. Blood Phe concentration values at 12 to 23 months of age and at 6 to 8 years of age significantly predicted treatment discontinuation before 13 years of age. CONCLUSION: Treatment adherence in PKU diminishes with age. Early signs of treatment discontinuation can be identified during the second year of life, allowing preventive interventions in high risk groups.

13.
Mol Genet Metab Rep ; 11: 12-16, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28377889

RESUMO

INTRODUCTION: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway. Implementation of nitisinone (NTBC) treatment has dramatically improved survival rate of individuals with HT1, yet recent reports on cognitive impairment in treated patients exist. AIMS: Describe long-term neurocognitive outcome individuals with HT1 treated with nitisinone and protein restricted diet. METHODOLOGY: Twelve individuals with HT1 were analyzed with respect to psychomotor development and cognitive functioning using standardized psychometric tests. Plasma tyrosine and phenylalanine concentrations were also collected and analyzed, as part of the regular HT1 follow up program in our clinic. RESULTS: Delayed performance in Bayley scale mental developmental index (MDI) was identified in 29% to 38% of the patients assessed at different ages. At preschool age, mean full scale IQ (FSIQ) was 88 ± 16; six out of nine assessed children preformed within normal range, and one child presented with intellectual disability. At school age mean FSIQ was 79 ± 18, three out of nine children preformed within normal range and two showed intellectual disability. Repeated measures showed IQ decline over time in four out of eight patients, all of whom presented with symptoms in their first months of life. Patients that showed no progressive IQ decline were 8 months or older at diagnosis, with a mean age of 17 months. Significant correlation between Phe/Tyr ratio and FSIQ at school age was identified (r = - 0.689; p < 0.044). CONCLUSION: Some patients with HT1 treated with nitisinone and protein restricted diet are at risk of presenting developmental delay and impaired cognitive functioning. Patients with early onset of symptoms could be at risk for progressive cognitive functioning decline over time.

14.
Mol Genet Metab Rep ; 5: 72-75, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28649547

RESUMO

BACKGROUND: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2­6 mg/dL). This study examines the cognitive functioning of early diagnosed children with mHPA compared with early diagnosed and treated children with PKU. SAMPLE AND METHODS: Psychomotor development (BSID-II) at 12 and 36 months of age, and cognitive performance at 4 and 7 years of age (WPPSI and WISC-R), were assessed in 118 PKU and 97 mHPA patients. Cognitive profile analysis of WISC-R subscales in school age children was performed and results were compared between the two groups. RESULTS: Both groups preformed within the average range. Scores were significantly higher in the mHPA group. The mean Mental Development Index (MDI) at 12 months of age was 98.1 in the mHPA group and 92.3 in the PKU group (p < 0.0002). At 36 months the MDI was 94.6 in the mHPA group and 84.7 in the PKU group (p = 0.0001. At age four years the mean Full Scale IQ was 106.5 (mHPA group) and 95.9 (PKU group) (p < 0.0001). At age seven years the mean Full Scale IQ was 100.9 (mHPA group) and 89.9 (PKU group) (p < 0.005). The pattern of deficits was similar in both groups, with relative weaknesses in working memory and attention. CONCLUSIONS: Children with mHPA achieved cognitive performance well within the average range and attained significantly higher scores than children with PKU. However, they appeared to have relative weaknesses in working memory and attention, similar to children with PKU.

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