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1.
Orphanet J Rare Dis ; 14(1): 86, 2019 04 27.
Artigo em Inglês | MEDLINE | ID: mdl-31029175

RESUMO

BACKGROUND: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease. However, burdensome complications occur despite a lifelong diet. For rare diseases, a patient disease specific registry is fundamental to monitor the lifespan pathology and to evaluate the safety and efficacy of potential therapies. In 2014, the international Galactosemias Network (GalNet) developed a web-based patient registry for this disease, the GalNet Registry. The aim was to delineate the natural history of classic galactosemia based on a large dataset of patients. METHODS: Observational data derived from 15 countries and 32 centers including 509 patients were acquired between December 2014 and July 2018. RESULTS: Most affected patients experienced neonatal manifestations (79.8%) and despite following a diet developed brain impairments (85.0%), primary ovarian insufficiency (79.7%) and a diminished bone mineral density (26.5%). Newborn screening, age at onset of dietary treatment, strictness of the galactose-restricted diet, p.Gln188Arg mutation and GALT enzyme activity influenced the clinical picture. Detection by newborn screening and commencement of diet in the first week of life were associated with a more favorable outcome. A homozygous p.Gln188Arg mutation, GALT enzyme activity of ≤ 1% and strict galactose restriction were associated with a less favorable outcome. CONCLUSION: This study describes the natural history of classic galactosemia based on the hitherto largest data set.


Assuntos
Galactosemias/patologia , UTP-Hexose-1-Fosfato Uridililtransferase/genética , Adolescente , Adulto , Estudos de Coortes , Feminino , Galactosemias/genética , Homozigoto , Humanos , Recém-Nascido , Masculino , Mutação/genética , Triagem Neonatal , Sistema de Registros , Estudos Retrospectivos , Adulto Jovem
2.
JIMD Rep ; 21: 23-33, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25712380

RESUMO

Maternal phenylketonuria (MPKU) is a well-recognized complication of PKU and one of the most potent teratogenic syndromes of pregnancy. Virtually all offspring from untreated pregnancies in women with classic PKU have intellectual disabilities and microcephaly. Congenital heart disease and intrauterine growth retardation occur many times more often than expected in the general population. Control of maternal blood phenylalanine during pregnancy prevents most if not all of these complications. Previous studies demonstrated the benefits of treatment in terms of birth parameters and early development. In this study, physical examinations, a medical history, and neuropsychological evaluation were obtained in 47 children from 24 mothers with PKU who received treatment during pregnancy. Mothers were interviewed and administered an abbreviated IQ test. Associations between maternal factors and offspring outcomes were also analyzed.The 21 male and 26 female offspring ranged in age from 1 month to 26 years with 21 (62%) over 6 years. Results indicated mean intercanthal distances above the 70th percentile. Microcephaly was present in 19% of offspring, with head circumference below the third percentile. None of the offspring had cardiac anomalies. Mean offspring IQ was 94 ± 19, with 12% performing in the range of intellectual disability (IQ < 70). Among children >5 years of age, 25% had learning disabilities, 31% had attention deficit hyperactivity disorder (ADHD), 22% were on ADHD medication, and 34% had a diagnosis of anxiety and/or depression. Among the 24 mothers, 12 reported following the diet for PKU. Only one woman on diet had a blood phenylalanine concentration <360 µmol/L (recommended range) and the majority had indications of poor nutritional status. Mean maternal Full Scale IQ was 94 ± 16 (range = 61-117), with 25% performing in the borderline intellectual range (IQ < 85). Verbal IQ was significantly lower than Performance IQ (p = 0.01, CI 2.7, 16.1). On the self-report Beck Depression Inventory, Second Edition, 25% received scores indicating mild to moderate depression, and on the Beck Anxiety Inventory, 46% reported mild to moderate anxiety. Offspring IQ correlated with maternal metabolic control during pregnancy (r = 0.51), maternal IQ (r = -0.62), and socioeconomic position (r = -0.48). Offspring with ADHD, learning disabilities, or emotional disturbances were more likely to have mothers with anxiety and/or depression. To ensure optimal offspring outcomes, healthcare providers need to assess maternal nutrition, blood phenylalanine concentrations, cognitive abilities, and socioeconomic position. Interventions can then be initiated that reduce psychosocial stressors and enhance adherence to diet and positive parenting, which in turn can lead to better cognitive functioning, behavior, and emotional well-being in their children.

3.
Mol Genet Metab ; 99 Suppl 1: S59-63, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20123472

RESUMO

Psychological and psychiatric problems are well documented across the lifespan of individuals with early-treated phenylketonuria (PKU). Early-treated children and adolescents tend to display attentional problems, school problems, lower achievement motivation, decreased social competence, decreased autonomy, and low-self-esteem. As they enter adulthood, early-treated individuals may carry forward low self-esteem and lack of autonomy but also tend to develop depressed mood, generalized anxiety, phobias, decreased positive emotions, social maturity deficits, and social isolation. The correlation between level of metabolic control and severity of symptoms suggests a biological basis of psychiatric dysfunction. Additionally, psychosocial factors such as the burden of living with a chronic illness may contribute to psychological and psychiatric outcomes in PKU. The lack of a PKU-specific psychiatric phenotype combined with the observation that not everyone with PKU is affected highlights the complexity of the problem. More research on psychiatric and psychological outcomes in PKU is required. Of particular importance is the routine monitoring of emotional, behavioral, and psychosocial symptoms in individuals with this metabolic disorder. Longitudinal studies are required to evaluate the impact of new and emerging therapies on psychiatric and psychosocial functioning in PKU. Unidentified or untreated emotional and behavioral symptoms may have a significant, lifelong impact on the quality of life and social status of patients.


Assuntos
Transtornos Mentais/complicações , Fenilcetonúrias/psicologia , Adulto , Criança , Humanos , Fenilcetonúrias/complicações
4.
Mol Genet Metab ; 95(1-2): 39-45, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18676165

RESUMO

The medical and neurodevelopmental characteristics of 14 children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) are described. Eight were detected as neonates by newborn screening. Three children diagnosed on the basis of clinical symptoms had normal newborn screening results while three were born in states that did not screen for SCADD. Treatment included frequent feedings and a low fat diet. All children identified by newborn screening demonstrated medical and neuropsychological development within the normative range on follow-up, although one child had a relative weakness in the motor area and another child exhibited mild speech delay. Of the three clinically identified children with newborn screening results below the cut-off value, two were healthy and performed within the normal range on cognitive and motor tests at follow-up. Four clinically identified children with SCADD experienced persistent symptoms and/or developmental delay. However, in each of these cases, there were supplementary or alternative explanations for medical and neuropsychological deficits. Results indicated no genotype-phenotype correlations. These findings suggest that SCADD might be benign and the clinical symptoms ascribed to SCADD reflective of ascertainment bias or that early identification and treatment prevented complications that may have occurred due to interaction between genetic susceptibility and other genetic factors or environmental stressors.


Assuntos
Acil-CoA Desidrogenase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/enzimologia , Triagem Neonatal , Acil-CoA Desidrogenase/genética , Adaptação Psicológica , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/psicologia , Boston , Pré-Escolar , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/psicologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Exame Neurológico
5.
J Inherit Metab Dis ; 29(5): 677-82, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16917730

RESUMO

As more states adopt expanded newborn screening for metabolic disorders, the overall number of false positives increases. False-positive screening results have been associated with increased anxiety and stress in parents of infants who require follow-up testing, even after the infant's good health is confirmed. This article reviews the literature on the negative impact of false-positive newborn screening results on parents, along with a review of current communication practices for follow-up screening. The results of this review suggest that parental stress and anxiety can be reduced with improved education and communication to parents, specifically at the time of follow-up screening. Communication strategies with sample materials are proposed.


Assuntos
Saúde da Família , Doenças Metabólicas/diagnóstico , Triagem Neonatal/métodos , Estresse Psicológico/etiologia , Ansiedade , Comunicação , Bases de Dados Bibliográficas , Reações Falso-Positivas , Humanos , Recém-Nascido , Pais
6.
J Inherit Metab Dis ; 28(6): 819-24, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16435173

RESUMO

Massachusetts currently offers an optional expanded newborn screening programme that tests for 20 biochemical genetic disorders in addition to the mandated newborn screening tests, including phenylketonuria (PKU) and nine other biochemical genetic disorders. We conducted a mail survey of 550 paediatricians listed in the 2000 Massachusetts Healthcare Directory to determine paediatricians' preparedness in discussing expanded newborn screening and its results with families, and to determine in what specific format physicians in Massachusetts would prefer to receive educational materials and updates. Of surveys mailed, 35% (190/550) were returned within the allotted 3 weeks: 25 paediatricians (14%) were unaware of expanded newborn screening; 78 respondents (42%) indicated feeling less than prepared talking about test results with families; 100 paediatricians (54%) indicated a lack of information about metabolic disorders; 134 (73%) preferred information sent in postal mailings, 62 (34%) preferred grand rounds, 60 (33%) preferred educational seminars, and 58 (32%) preferred websites. Other formats receiving preferences of less than 30% included e-mail (27%), phone calls (8%), video (6%), and distance learning (1%). Paediatricians are ill-prepared for expanded newborn screening for biochemical genetic disorders. To address this problem, paediatricians in Massachusetts indicated a preference for unsolicited periodic mailings including short reviews and brochures.


Assuntos
Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Triagem Neonatal/métodos , Pediatria/métodos , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/genética , Atitude do Pessoal de Saúde , Comunicação , Educação a Distância , Educação Médica Continuada , Correio Eletrônico , Humanos , Recém-Nascido , Massachusetts , Inquéritos e Questionários
7.
J Inherit Metab Dis ; 27(2): 197-204, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15159650

RESUMO

Untreated pregnancies and their outcomes were studied in 10 women with histidinaemia and their 26 pregnancies. The mean maternal assigned histidine level was 727+/-186 micromol/L (range 484-1,053). Six women had classic histidinaemia (assigned level >700 micromol/L) and the remaining four had mild (atypical) histidinaemia. The pregnancies were uneventful, with only one spontaneous loss and 25 live births. Birth measurements were normal and no congenital anomalies were observed. Growth and development were normal in all offspring. IQ among the 23 offspring tested was 103+/-12 (range 79-122). Four offspring required special education for brief periods and one for several years, but this frequency, as well as that of 12% for attention deficit hyperactive disorder, was not significantly different from expected in the general population. It would appear that maternal histidinaemia, unlike maternal phenylketonuria, can be added to the list of maternal inborn errors of metabolism that are nonteratogenic.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/fisiopatologia , Histidina/sangue , Complicações na Gravidez/fisiopatologia , Resultado da Gravidez , Adolescente , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/genética , Peso ao Nascer , Criança , Desenvolvimento Infantil , Cognição , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez/sangue , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos
8.
Clin Endocrinol (Oxf) ; 58(5): 612-6, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12699443

RESUMO

OBJECTIVES: To test the hypothesis that thyroglobulin (Tg) and free T4 (FT4) concentrations more than 2SD from the control mean are not increased in pregnancy in an iodine replete area in the absence of elevated TSH concentrations. The second hypothesis to be tested was that if such abnormalities in FT4 and Tg in the absence of elevated TSH concentrations were to exist they would not be associated with lowered IQs in the progeny. DESIGN: Cross-sectional study in New England comparing TSH, Tg, antibodies to Tg and FT4 in volunteer nonpregnant women 20-40 years old with those in hypothyroid mothers and matched euthyroid control mothers. The results are contrasted with those from similar studies reported from iodine deficient areas. SUBJECTS: Sera obtained at 17 weeks gestation and stored at -20 degrees C for 8 years were retrieved and analysed from 62 mothers with subclinical hypothyroidism and 124 matched euthyroid mothers. The diagnosis of hypothyroidism was made by finding a TSH concentration > 97.7 percentiile for 25 000 consecutive pregnant women. Sera were also analysed from 53 healthy nonpregnant volunteer women aged 20-40 years. MEASUREMENTS: TSH, Tg and Tg antibodies were measured in the sera of the nonpregnant volunteers, and Tg and Tg antibodies in the sera of the pregnant women who had previously been analysed for TSH and FT4. The incidence of FT4 concentrations below the 2.3 percentile of nonpregnant laboratory controls was compared for the euthyroid and hypothyroid mothers and the laboratory normal controls. RESULTS: Thirty-one per cent of the 62 hypothyroid mothers had FT4 concentrations below the 2.3 percentile compared with only one (0.8%) of the euthyroid mothers. Mean Tg concentrations did not differ between the nonpregnant controls and the euthyroid pregnant women, 14 +/- 10 vs. 16 +/- 10 micro g/l. Tg concentration in the hypothyroid mothers was 44 +/- 61, significantly greater than for either of the euthyroid control groups, P < 0.005. Positive antibodies to Tg were found in 9% and 10% of the control groups and 57% of the hypothyroid mothers, P < 0.0005. When TSH is included as an independent variable in multiple linear and logistic regressions, FT4 and Tg no longer correlate significantly with IQs. CONCLUSIONS: The incidences of FT4 concentrations more than 2SD below the control mean and of Tg > 2SD above the control mean are significantly increased in hypothyroid mothers in iodlne-sufficient New England. However, in the absence of elevated TSH concentrations, the incidences of such abnormalities in FT4 and TG are negligible. Indeed, concentrations for FT4, Tg and Tg antibodies for nonpregnant and pregnant controls in our iodine-replete area do not differ significantly from each other or from previously reported normative concentrations with the methods used. Thus, pregnancy in New England neither increases Tg nor lowers FT4 concentrations.


Assuntos
Hipotireoidismo/fisiopatologia , Iodo/metabolismo , Glândula Tireoide/fisiologia , Adulto , Lesões Encefálicas/etiologia , Estudos Transversais , Feminino , Doenças Fetais/etiologia , Humanos , Hipotireoidismo/sangue , Imunoglobulinas Estimuladoras da Glândula Tireoide/sangue , Inteligência , Troca Materno-Fetal/fisiologia , Gravidez , Fatores de Risco , Tireoglobulina/sangue , Tireotropina/sangue , Tiroxina/sangue
9.
J Inherit Metab Dis ; 25(4): 299-314, 2002 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-12227460

RESUMO

Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine beta-synthase (CbetaS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical and biochemical information was obtained on women with maternal homocystinuria, on their pregnancies and on the offspring. This information included blood sulphur amino acids and total homocysteine, CbetaS gene mutations and developmental and cognitive scores in the offspring. The study involved 15 pregnancies in 11 women, of whom 5 were pyridoxine-nonresponsive and 6 were pyridoxine-responsive. Complications of pregnancy included pre-eclampsia at term in two pregnancies and superficial venous thrombosis of the leg in a third pregnancy. One pregnancy was terminated and two pregnancies resulted in first-trimester spontaneous abortions. The remaining 12 pregnancies produced live-born infants with normal or above-normal birth measurements. One offspring has multiple congenital anomalies that include colobomas of the iris and choroid, neural tube defect and undescended testes. He is also mentally retarded and autistic. A second offspring has Beckwith-Wiedemann syndrome. The remaining 10 offspring were normal at birth and have remained normal. There was no relationship between the severity of the biochemical abnormalities or the therapies during pregnancy to either the pregnancy complications or the offspring outcomes. The infrequent occurrences of pregnancy complications, offspring abnormalities and maternal thromboembolic events in this series suggest that pregnancy and outcome in maternal homocystinuria are usually normal. Nevertheless, a cautious approach would include careful monitoring of these pregnancies with attention to metabolic therapy and possibly anticoagulation.


Assuntos
Cistationina beta-Sintase/deficiência , Cistationina beta-Sintase/genética , Homocistinúria/complicações , Reprodução/genética , Adolescente , Adulto , Aminoácidos/sangue , Aminoácidos Sulfúricos/metabolismo , Criança , Pré-Escolar , Análise Mutacional de DNA , Parto Obstétrico , Resistência a Medicamentos , Feminino , Homocistina/sangue , Homocistinúria/etiologia , Homocistinúria/genética , Humanos , Recém-Nascido , Estado Nutricional , Gravidez , Resultado da Gravidez , Piridoxina/metabolismo , Piridoxina/uso terapêutico , Reprodução/fisiologia
10.
J Inherit Metab Dis ; 25(7): 599-600, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12638945

RESUMO

A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.


Assuntos
Erros Inatos do Metabolismo/diagnóstico , Triagem Neonatal , Adolescente , Deficiência de Biotinidase/diagnóstico , Criança , Pré-Escolar , Galactosemias/diagnóstico , Homocistinúria/diagnóstico , Humanos , Lactente , Recém-Nascido , Doença da Urina de Xarope de Bordo/diagnóstico , Avaliação de Resultados em Cuidados de Saúde
13.
J Med Screen ; 8(1): 18-20, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11373843

RESUMO

BACKGROUND: An association between maternal subclinical hypothyroidism and low intelligence quotient (IQ) in the offspring has recently been shown. OBJECTIVE: To provide evidence for the causality of the association by testing the hypothesis that severity of maternal hypothyroidism correlates inversely with IQ of the offspring. METHODS: IQ scores were compared among 8 year old offspring of 124 control mothers whose thyroid stimulating hormone (TSH) concentrations were < 98th percentile of a cohort of 25,000 mothers at 17 weeks gestation, of 28 untreated hypothyroid women whose TSH was between the 98th and 99.85th percentiles, and of 20 untreated women whose TSH concentration was > or = 99.85th percentile. RESULTS: Mean (SD) IQs for each group of children (in ascending order of maternal TSH concentration) were 107 (13), 102 (15), and 97 (14). The difference between the extremes was significant (p = 0.003). The percentage of children with IQs > 1 SD below the control mean was 15, 21, and 50 respectively (p = 0.003). The odds ratio of having an IQ > 1 SD below the control mean, after controlling for socioeconomic status, was 4.7 (p = 0.006) for the third group compared with the controls. CONCLUSIONS: The inverse correlation between severity of maternal hypothyroidism and IQ of the offspring supports a causal relation and makes the need to screen for and treat pregnant women for hypothyroidism even more compelling.


Assuntos
Transtornos Cognitivos/etiologia , Transtornos Cognitivos/psicologia , Hipotireoidismo/sangue , Hipotireoidismo/complicações , Troca Materno-Fetal , Complicações na Gravidez/sangue , Estudos de Casos e Controles , Criança , Feminino , Humanos , Recém-Nascido , Inteligência , Análise Multivariada , Gravidez , Estudos Retrospectivos , Tireotropina/sangue
15.
Am J Med Genet ; 96(2): 192-5, 2000 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-10893496

RESUMO

Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation. The less severe mut(-) form of the disorder, however, has been described with only mild to moderate cognitive deficits or, rarely, with normal neurodevelopment in asymptomatic cases. Nevertheless, there has been no detailed documentation of long-term neuropsychological function in the mut(-) form and relatively few IQ scores. We performed longitudinal developmental and neuropsychological assessments on a girl with symptomatic mut(-) methylmalonic acidemia whose biochemical abnormalities were in the moderately severe range and who had had recurrent episodes of ketoacidosis. At almost 12 years of age, her full scale IQ on the Wechsler Intelligence Scale, third edition, was 129 with very superior and superior scores on nonverbal and verbal skills, respectively. On the National Achievement Test she scored above the 99th percentile in the Basic Battery and is considered to be a gifted student. This outcome suggests that the spectrum of cognitive attainment in mut(-) methylmalonic acidemia is wide and that even a moderate degree of biochemical severity with ketoacidotic episodes may not result in cognitive deficit. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:192-195, 2000.


Assuntos
Transtornos Cognitivos/psicologia , Erros Inatos do Metabolismo Lipídico/psicologia , Ácido Metilmalônico/sangue , Adolescente , Criança , Transtornos Cognitivos/sangue , Transtornos Cognitivos/genética , Transtornos Cognitivos/urina , Feminino , Humanos , Testes de Inteligência , Erros Inatos do Metabolismo Lipídico/sangue , Erros Inatos do Metabolismo Lipídico/genética , Erros Inatos do Metabolismo Lipídico/urina , Estudos Longitudinais , Ácido Metilmalônico/urina , Testes Neuropsicológicos , Estudos Prospectivos
16.
JAMA ; 283(6): 756-62, 2000 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-10683054

RESUMO

CONTEXT: Untreated maternal phenylketonuria (PKU) increases risk for developmental problems in offspring. The extent to which this risk is reduced by maternal dietary therapy at various stages of pregnancy is not known. OBJECTIVE: To determine whether dietary treatment during pregnancy of women with PKU affects developmental outcomes of offspring. DESIGN: The Maternal PKU Collaborative Study, an ongoing, longitudinal prospective study begun in 1984. SETTING: A total of 78 metabolic clinics and obstetrical offices in the United States, Canada, and Germany. PARTICIPANTS: A total of 253 children of women with PKU (n = 149), with untreated mild hyperphenylalaninemia (n = 33), or without known metabolic problems (comparison group; n = 71) were followed up to age 4 years. INTERVENTION: Women with PKU were offered a low-phenylalanine diet prior to or during pregnancy with the aim of maintaining metabolic control (plasma phenylalanine < or =10 mg/dL [< or =605 micromol/L]). Women with mild hyperphenylalaninemia, who had plasma phenylalanine levels of no more than 10 mg/dL (605 micromol/L) on a normal diet, were not treated. MAIN OUTCOME MEASURES: Children's scores on cognitive and behavioral assessments (McCarthy Scales of Children's Abilities, Test of Language Development, Achenbach Child Behavior Checklist, Vineland Adaptive Behavior Scales, and Home Observation for Measurement of the Environment), compared by maternal metabolic status at 0 to 10 weeks', 10 to 20 weeks', and after 20 weeks' gestation. RESULTS: Scores on the McCarthy General Cognitive Index decreased as weeks to metabolic control increased (r = -0.58; P<.001). Offspring of women who had metabolic control prior to pregnancy had a mean (SD) score of 99 (13). Forty-seven percent of offspring whose mothers did not have metabolic control by 20 weeks' gestation had a General Cognitive Index score 2 SDs below the norm. Overall, 30% of children born to mothers with PKU had social and behavioral problems. CONCLUSIONS: Our data suggest that delayed development in offspring of women with PKU is associated with lack of maternal metabolic control prior to or early in pregnancy. Treatment at any time during pregnancy may reduce the severity of delay.


Assuntos
Deficiências do Desenvolvimento , Fenilcetonúrias/dietoterapia , Fenilcetonúrias/fisiopatologia , Complicações na Gravidez/dietoterapia , Comportamento Infantil , Pré-Escolar , Cognição , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Feminino , Humanos , Modelos Logísticos , Estudos Longitudinais , Masculino , Gravidez , Resultado da Gravidez , Testes Psicológicos
17.
Am J Obstet Gynecol ; 181(3): 753-5, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10486496

RESUMO

gamma-Cystathionase deficiency (cystathioninemia-cystathioninuria) is a disorder of the transsulfuration pathway characterized by the accumulation of cystathionine in blood and urine. There are probably no clinical consequences. However, maternal gamma-cystathionase deficiency has not been reported. We studied 2 pregnancies and the offspring of these pregnancies in a woman with the pyridoxine-nonresponsive form of the disorder. The outcomes were favorable, suggesting that maternal gamma-cystathionase deficiency may not be deleterious to the pregnant woman or the fetus.


Assuntos
Cistationina gama-Liase/deficiência , Complicações na Gravidez , Resultado da Gravidez , Adulto , Cistationina/sangue , Cistationina/urina , Feminino , Humanos , Recém-Nascido , Gravidez
18.
N Engl J Med ; 341(8): 549-55, 1999 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-10451459

RESUMO

BACKGROUND: When thyroid deficiency occurs simultaneously in a pregnant woman and her fetus, the child's neuropsychological development is adversely affected. Whether developmental problems occur when only the mother has hypothyroidism during pregnancy is not known. METHODS: In 1996 and 1997, we measured thyrotropin in stored serum samples collected from 25,216 pregnant women between January 1987 and March 1990. We then located 47 women with serum thyrotropin concentrations at or above the 99.7th percentile of the values for all the pregnant women, 15 women with values between the 98th and 99.6th percentiles, inclusive, in combination with low thyroxine levels, and 124 matched women with normal values. Their seven-to-nine-year-old children, none of whom had hypothyroidism as newborns, underwent 15 tests relating to intelligence, attention, language, reading ability, school performance, and visual-motor performance. RESULTS: The children of the 62 women with high serum thyrotropin concentrations performed slightly less well on all 15 tests. Their full-scale IQ scores on the Wechsler Intelligence Scale for Children, third edition, averaged 4 points lower than those of the children of the 124 matched control women (P= 0.06); 15 percent had scores of 85 or less, as compared with 5 percent of the matched control children. Of the 62 women with thyroid deficiency, 48 were not treated for the condition during the pregnancy under study. The full-scale IQ scores of their children averaged 7 points lower than those of the 124 matched control children (P=0.005); 19 percent had scores of 85 or less. Eleven years after the pregnancy under study, 64 percent of the untreated women and 4 percent of the matched control women had confirmed hypothyroidism. CONCLUSIONS: Undiagnosed hypothyroidism in pregnant women may adversely affect their fetuses; therefore, screening for thyroid deficiency during pregnancy may be warranted.


Assuntos
Deficiências do Desenvolvimento/etiologia , Doenças Fetais , Hipotireoidismo/complicações , Inteligência , Complicações na Gravidez , Adulto , Estudos de Casos e Controles , Criança , Linguagem Infantil , Feminino , Seguimentos , Humanos , Hipotireoidismo/sangue , Masculino , Testes Neuropsicológicos , Gravidez/sangue , Complicações na Gravidez/sangue , Desempenho Psicomotor , Tireotropina/sangue , Tiroxina/sangue
19.
J Inherit Metab Dis ; 22(5): 615-22, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10399094

RESUMO

Mothers of children with mitochondrial disorders, inherited neurodegenerative diseases, are faced with a frightening diagnosis and numerous demands associated with caring for these children. The psychological profile of mothers whose children carry a mitochondrial disorder is unknown. Forty-two mothers of children with mitochondrial disorders were interviewed and administered the Minnesota Multiphasic Personality Inventory--Second Edition (MMPI-2). Fifty-six per cent of the mothers had scores in the pathological range on three or more scales, most notably on Hypochondriasis, Hysteria and Paranoia scales. The MMPI-2 profile is associated with situational anxiety and stress or may be associated with carrier status characteristics. Whatever the cause, future studies need to determine whether supportive services can reduce the level of anxiety and stress in mothers of children with these disorders.


Assuntos
Encefalomiopatias Mitocondriais/psicologia , Miopatias Mitocondriais/psicologia , Relações Mãe-Filho , Mães/psicologia , Adolescente , Adulto , Criança , Feminino , Humanos , MMPI , Pessoa de Meia-Idade
20.
Am J Public Health ; 89(5): 762-4, 1999 May.
Artigo em Inglês | MEDLINE | ID: mdl-10224992

RESUMO

OBJECTIVES: The purpose of this study was to measure the effectiveness of resource mothers in reducing adverse consequences of maternal phenylketonuria. METHODS: Nineteen pregnancies in the resource mothers group were compared with 64 pregnancies in phenylketonuric women without resource mothers. Weeks to metabolic control and offspring outcome were measured. RESULTS: Mean number of weeks to metabolic control was 8.5 (SE = 2.2) in the resource mothers group, as compared with 16.1 (SE = 1.7) in the comparison group. Infants of women in the resource mothers group had larger birth head circumferences and higher developmental quotients. CONCLUSIONS: The resource mothers program described here improves metabolic control in pregnant women with phenylketonuria.


Assuntos
Agentes Comunitários de Saúde/educação , Serviços de Assistência Domiciliar/organização & administração , Mães/educação , Educação de Pacientes como Assunto/organização & administração , Fenilcetonúria Materna/prevenção & controle , Apoio Social , Adolescente , Adulto , Feminino , Humanos , New England , Grupo Associado , Fenilcetonúria Materna/metabolismo , Gravidez , Resultado da Gravidez , Avaliação de Programas e Projetos de Saúde , Fatores de Tempo
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