RESUMEN
Symptoms of attention deficit-hyperactivity disorder (ADHD), particularly inattention, and impairments in executive functioning have been reported in early and continuously treated children, adolescents, and adults with phenylketonuria (PKU). In addition, higher blood phenylalanine (Phe) levels have been correlated with the presence of ADHD symptoms and executive functioning impairment. The placebo-controlled PKU ASCEND study evaluated the effects of sapropterin therapy on PKU-associated symptoms of ADHD and executive and global functioning in individuals who had a therapeutic blood Phe response to sapropterin therapy. The presence of ADHD inattentive symptoms and executive functioning deficits was confirmed in this large cohort of 206 children and adults with PKU, of whom 118 responded to sapropterin therapy. In the 38 individuals with sapropterin-responsive PKU and ADHD symptoms at baseline, sapropterin therapy resulted in a significant improvement in ADHD inattentive symptoms in the first 4 weeks of treatment, and improvements were maintained throughout the 26 weeks of treatment. Sapropterin was well-tolerated with a favorable safety profile. The improvements in ADHD inattentive symptoms and aspects of executive functioning in response to sapropterin therapy noted in a large cohort of individuals with PKU indicate that these symptoms are potentially reversible when blood Phe levels are reduced.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/tratamiento farmacológico , Biopterinas/análogos & derivados , Función Ejecutiva/efectos de los fármacos , Fenilalanina/sangre , Fenilcetonurias/tratamiento farmacológico , Adolescente , Adulto , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/metabolismo , Biopterinas/efectos adversos , Biopterinas/uso terapéutico , Niño , Relación Dosis-Respuesta a Droga , Método Doble Ciego , Femenino , Humanos , Masculino , Fenilcetonurias/complicaciones , Adulto JovenRESUMEN
Cognitive deficits, learning difficulties, and emotional problems occur at significantly higher rates in individuals with phenylketonuria (PKU) than in the general population. The relationship between elevated blood phenylalanine (Phe) levels and the severity of these problems often remain unrecognized. Children and adults with PKU require ongoing screening so that referrals to psychologists or psychiatrists familiar with metabolic disorders can be made when necessary for in-depth evaluation and treatment. To identify screening instruments that can be used by non-psychologists as well as psychologists, a group of 10 psychologists and a psychiatrist in the United States with expertise in neuropsychological assessment and PKU proposed a Uniform Assessment Method for PKU. Questionnaires were selected that reliably detect problems in adaptive behavior, executive function, and emotional well-being, representing the most vulnerable areas for individuals with PKU. These questionnaires are appropriate for individuals from infancy through adulthood, may be administered in less than 1h, have computerized scoring accessibility, have no practice effects, and are available in Spanish and English. In addition to assessing function at a single point in time, the screening measures may be administered at each clinic visit to assess changes in function related to metabolic status or treatment (e.g., Phe-restricted diet, food supplements). The following questionnaires comprise the Uniform Assessment Method for PKU: for 0-2 years, Adaptive Behavior Assessment System-Second Edition (ABAS-II); for 2-17 years, Behavior Rating Inventory of Executive Function (BRIEF) and Behavior Assessment System for Children-Second Edition (BASC-II); and for adults, BRIEF, Beck Anxiety Inventory (BAI), and Beck Depression Inventory-Second Edition (BDI-II). In addition to long-term monitoring of outcomes in PKU, this uniform screening approach facilitates PKU research, as data may be pooled across multiple clinics using a consistent battery of assessment measures.
Asunto(s)
Trastornos del Conocimiento/complicaciones , Emociones , Fenilcetonurias/complicaciones , Conducta Social , Adolescente , Adulto , Niño , Preescolar , Función Ejecutiva , Humanos , Fenilcetonurias/psicología , Encuestas y CuestionariosRESUMEN
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.
Asunto(s)
Trastornos Mentales/complicaciones , Fenilcetonurias/psicología , Adulto , Niño , Humanos , Fenilcetonurias/complicacionesRESUMEN
BACKGROUND: Wolff-Parkinson-White syndrome (WPW) is a bypass re-entrant tachycardia that results from an abnormal connection between the atria and ventricles. Mutations in PRKAG2 have been described in patients with familial WPW syndrome and hypertrophic cardiomyopathy. Based on the role of bone morphogenetic protein (BMP) signalling in the development of annulus fibrosus in mice, it has been proposed that BMP signalling through the type 1a receptor and other downstream components may play a role in pre-excitation. METHODS AND RESULTS: Using the array comparative genomic hybridisation (CGH), we identified five individuals with non-recurrent deletions of 20p12.3. Four of these individuals had WPW syndrome with variable dysmorphisms and neurocognitive delay. With the exception of one maternally inherited deletion, all occurred de novo, and the smallest of these harboured a single gene, BMP2. In two individuals with additional features of Alagille syndrome, deletion of both JAG1 and BMP2 were identified. Deletion of this region has not been described as a copy number variant in the Database of Genomic Variants and has not been identified in 13 321 individuals from other cohort examined by array CGH in our laboratory. CONCLUSIONS: Our findings demonstrate a novel genomic disorder characterised by deletion of BMP2 with variable cognitive deficits and dysmorphic features and show that individuals bearing microdeletions in 20p12.3 often present with WPW syndrome.
Asunto(s)
Proteína Morfogenética Ósea 2/genética , Trastornos del Conocimiento/genética , Eliminación de Secuencia , Síndrome de Wolff-Parkinson-White/genética , Adulto , Síndrome de Alagille/genética , Animales , Proteínas de Unión al Calcio/genética , Hibridación Genómica Comparativa , Electrocardiografía , Facies , Femenino , Dosificación de Gen , Humanos , Lactante , Péptidos y Proteínas de Señalización Intercelular/genética , Proteína Jagged-1 , Masculino , Proteínas de la Membrana/genética , Ratones , Ratones Transgénicos , Análisis de Secuencia por Matrices de Oligonucleótidos , Proteínas Serrate-Jagged , Síndrome de Wolff-Parkinson-White/patologíaRESUMEN
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.
Asunto(s)
Galactosemias/patología , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Adolescente , Adulto , Estudios de Cohortes , Femenino , Galactosemias/genética , Homocigoto , Humanos , Recién Nacido , Masculino , Mutación/genética , Tamizaje Neonatal , Sistema de Registros , Estudios Retrospectivos , Adulto JovenRESUMEN
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.
Asunto(s)
Acil-CoA Deshidrogenasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/enzimología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/enzimología , Tamizaje Neonatal , Acil-CoA Deshidrogenasa/genética , Adaptación Psicológica , Errores Innatos del Metabolismo de los Aminoácidos/genética , Errores Innatos del Metabolismo de los Aminoácidos/psicología , Boston , Preescolar , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/psicología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Examen NeurológicoRESUMEN
PURPOSE: To evaluate the feasibility, safety, and long-term outcomes of laparoscopic two-port totally extraperitoneal (TEP) inguinal hernia repair. METHODS: A 10-year retrospective analysis from 2004 to 2013 of patients undergoing two-port TEP performed by a single surgeon at three surgical centers. RESULTS: 336 consecutive patients underwent two-port TEP repairing 478 hernias. 315 (93.8 %) patients were male and 21 (6.2 %) were female. Mean age ± SD was 47 ± 14 years and mean body mass index ± SD was 28.0 ± 4.7 kg/m(2). Indications for surgery included primary repair 303 (90.2 %), recurrence from open repair 28 (8.3 %), and incarcerated inguinal hernia 5 (1.5 %). 194 (57.7 %) cases were unilateral and 142 (42.3 %) were bilateral. Operative time ± SD was 38.7 ± 14.9 min for unilateral repair and 43.4 ± 17.6 min for bilateral repair. Two-port TEP was successful in 316 (94.0 %). 20 (6.0 %) cases required the addition of a third port. 2 (0.6 %) cases were converted to open repair. Mean follow-up time ± SD was 5.4 ± 2.7 years. Postoperative complications included urinary retention 5 (1.5 %), seroma 7 (2.1 %), hematoma 1 (0.3 %), surgical site infection 4 (1.2 %), and chronic inguinal pain 3 (0.9 %). 11 (2.3 %) hernias recurred. CONCLUSION: Two-port TEP appears to be a feasible, safe, and effective method for laparoscopic inguinal hernia repair and should be considered a viable, less invasive alternative to conventional three-port techniques.
Asunto(s)
Hernia Inguinal/cirugía , Herniorrafia/métodos , Laparoscopía/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Factibilidad , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
OBJECTIVE: To assess psychosocial factors related to preventing birth defects in children born to diabetic women. Diabetic women are at high risk for bearing children with congenital anomalies associated with teratogenic effects early in pregnancy. This study focuses on factors related to the family planning behavior of diabetic women. RESEARCH DESIGN AND METHODS: Sixty-six diabetic women were included in a 5-yr, prospective, longitudinal study along with 69 phenylketonuric women, who also face a high risk of bearing children with birth defects, and 68 healthy women. Annual interviews and questionnaires were administered. Women who did not want a pregnancy completed measures related to contraceptive behavior and quality of life. Areas assessed were knowledge, personality, attitudes, and social support. RESULTS: Diabetic women were more likely to be sexually active than women with phenylketonuria. Use and type of birth control were comparable among the groups except that diabetic women used condoms more often. For diabetic women, social support and positive attitudes towards birth control were associated with consistent birth control use. Of the diabetic women, 23 became pregnant, and only 6 (26%) were planned pregnancies. CONCLUSIONS: Birth control use by diabetic women needs to be addressed by health professionals. Attitudes about birth control of the women and those close to them appear to be important factors in consistent birth control use. Suggestions are made for addressing these factors.
Asunto(s)
Anomalías Congénitas/prevención & control , Fenilcetonurias/prevención & control , Complicaciones del Embarazo/psicología , Embarazo en Diabéticas/psicología , Adolescente , Adulto , Análisis de Varianza , Actitud Frente a la Salud , Anomalías Congénitas/epidemiología , Servicios de Planificación Familiar , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Control Interno-Externo , Entrevistas como Asunto , Estudios Longitudinales , Personalidad , Fenilcetonurias/complicaciones , Embarazo , Estudios Prospectivos , Factores de Riesgo , Autoimagen , Apoyo Social , Factores Socioeconómicos , Encuestas y CuestionariosRESUMEN
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.
RESUMEN
Ninety-one individuals with phenylketonuria who were treated early in life were followed for as many as 22 years. Regression analyses were used to determine the best predictors of IQ and IQ change. Among treatment-related variables, good dietary control of the blood phenylalanine level stood out as the best predictor of IQ. Diet discontinuation and the natural (off diet) blood phenylalanine level best predicted IQ loss, suggesting that diet continuation may be important for children with natural blood phenylalanine levels greater than 18 mg/dL.
Asunto(s)
Inteligencia , Fenilalanina/sangre , Fenilcetonurias/dietoterapia , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Pruebas de Inteligencia , Masculino , Evaluación de Procesos y Resultados en Atención de Salud , Fenilcetonurias/sangre , Fenilcetonurias/psicología , ProbabilidadRESUMEN
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.
Asunto(s)
Trastornos del Conocimiento/psicología , Errores Innatos del Metabolismo Lipídico/psicología , Ácido Metilmalónico/sangre , Adolescente , Niño , Trastornos del Conocimiento/sangre , Trastornos del Conocimiento/genética , Trastornos del Conocimiento/orina , Femenino , Humanos , Pruebas de Inteligencia , Errores Innatos del Metabolismo Lipídico/sangre , Errores Innatos del Metabolismo Lipídico/genética , Errores Innatos del Metabolismo Lipídico/orina , Estudios Longitudinales , Ácido Metilmalónico/orina , Pruebas Neuropsicológicas , Estudios ProspectivosRESUMEN
The date October 22, 1993, marks the centenary of the birth of Lester R. Dragstedt. He emerged from humble roots of Swedish immigrant parents to become one of the pre-eminent surgical innovators of the twentieth century. Early in his scientific career, Dragstedt was profoundly influenced by another Swede, A. J. Carlson, who was initially employed as a Lutheran minister in Dragstedt's hometown of Anaconda, Montana. Carlson left the ministry for graduate school and later became chairman of The Department of Physiology at the University of Chicago. When Dragstedt finished his schooling, Carlson convinced him to attend the University of Chicago. In addition to Carlson, Dragstedt's research was influenced by many prominent physiologists and surgeons, including Pavlov and Latarjet. Their work, along with his own investigations, helped him both to formulate his hypotheses on the regulation of gastric acid secretion and to formalize the operation of truncal vagotomy. In 1943, Dragstedt initiated the clinical use of this procedure in North America. Although he studied his patients carefully and documented his results meticulously, the operation initially met with considerable resistance from both his medical and surgical colleagues. Over time, many other surgeons accepted vagotomy as a viable procedure and further modified his technique. The unique ability of Dragstedt to transfer his research studies to the development and implementation of rational surgical therapy remains an enduring example for the surgical profession.
Asunto(s)
Vagotomía/historia , Historia del Siglo XIX , Historia del Siglo XX , Historia Antigua , Humanos , Fisiología/historia , Estados UnidosRESUMEN
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.
Asunto(s)
Trastornos del Conocimiento/etiología , Trastornos del Conocimiento/psicología , Hipotiroidismo/sangre , Hipotiroidismo/complicaciones , Intercambio Materno-Fetal , Complicaciones del Embarazo/sangre , Estudios de Casos y Controles , Niño , Femenino , Humanos , Recién Nacido , Inteligencia , Análisis Multivariante , Embarazo , Estudios Retrospectivos , Tirotropina/sangreRESUMEN
A short multiple-choice knowledge test on maternal phenylketonuria was developed and validated. It was administered to 49 young female patients participating in a longitudinal study. The test was analyzed for its psychometric qualities and was found to be reliable: Cronbach alpha 0.62. Its validity was indicated by a moderate correlation with IQ scores (r = 0.40) and by its significantly differentiating between subjects who participated in patient education group meetings and those who did not. Items varied in difficulty, indicating which areas of knowledge need special educational efforts. The test was recommended for use to assess patients' knowledge, to identify misconceptions that appear to be remedied by patient education, to stimulate group discussions and to help evaluate educational programs.
Asunto(s)
Evaluación Educacional/normas , Educación en Salud/normas , Fenilcetonurias/prevención & control , Adolescente , Adulto , Estudios de Evaluación como Asunto , Femenino , Humanos , PsicometríaRESUMEN
Follow-up of early-treated children with PKU has shown that diet discontinuation in childhood presents risks of cognitive and emotional dysfunction in a substantial number of adolescents and young adults. This dysfunction includes IQ loss, mental processing abnormalities, learning difficulties, anxiety and personality disorders. In addition, neurologic deterioration has been reported in several such individuals. As a consequence of this current understanding of PKU, diet continuation, at least through adolescence and in the young adult years, is now recommended. Many centers are extending this to a policy of "diet for life". This represents a major challenge to adolescents and their families. Metabolic control using the criteria applied during childhood is virtually impossible to achieve past 12 years of age. Time constraints, social pressures, financial limitations and growing independence from the family combine to interfere with dietary control. Added to these difficulties are the biological changes during teenage years which reduce phenylalanine tolerance. To meet these challenges, we have identified a number of psychosocial factors that interfere with adherence to medical recommendations. The factors most highly related to metabolic control were social support for the diet and positive perceptions of treatment. This information has led to the development of support programs for adolescents and young adults with PKU.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Trastornos del Conocimiento/etiología , Trastornos Mentales/etiología , Fenilcetonurias/dietoterapia , Fenilcetonurias/psicología , Psicología del Adolescente , Adolescente , Actitud Frente a la Salud , Estudios de Seguimiento , Humanos , Cooperación del Paciente , Educación del Paciente como Asunto , Fenilcetonurias/complicaciones , Fenilcetonurias/metabolismo , Grupos de Autoayuda , Apoyo SocialRESUMEN
Phenylketonuria is no longer associated with mental retardation and other devastating neurological effects. Nonetheless, learning disabilities and IQ loss are common, even in early-treated individuals. Until recently, IQ was used as the sole measure of mental functioning in this population. As specific academic deficits were recognized and as a greater variety of tests became available, evaluation of children with phenylketonuria has included neuropsychological testing. A review of the 21 published reports highlights the areas of consensus and the need for additional well designed studies in the future. Problem solving, particularly abstract reasoning and executive functions, appears to be impaired in children with phenylketonuria. Reaction time, or speed of mental processing, appears to be the other important area affected in PKU. An information processing model is presented as a paradigm for further research and development of remedial strategies for children with phenylketonuria.
Asunto(s)
Discapacidad Intelectual/etiología , Procesos Mentales , Fenilcetonurias/complicaciones , Factores de Edad , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/psicología , Inteligencia , Pruebas Neuropsicológicas , Fenilcetonurias/dietoterapiaRESUMEN
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.
Asunto(s)
Salud de la Familia , Enfermedades Metabólicas/diagnóstico , Tamizaje Neonatal/métodos , Estrés Psicológico/etiología , Ansiedad , Comunicación , Bases de Datos Bibliográficas , Reacciones Falso Positivas , Humanos , Recién Nacido , PadresRESUMEN
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.