Maralixibat Treatment Response in Alagille Syndrome is Associated with Improved Health-Related Quality of Life.

OBJECTIVE: The objective of this study was to assess the impact of treatment response to the ileal bile acid transporter inhibitor maralixibat on health-related quality of life (HRQoL) in children with Alagille syndrome. STUDY DESIGN: This analysis used data from the ICONIC trial, a phase 2 study with a 4-week double-blind, placebo-controlled, randomized drug withdrawal period in children with Alagille syndrome with moderate-to-severe pruritus. Clinically meaningful treatment response to maralixibat was defined a priori as a ≥1-point reduction in the Itch-Reported Outcome (Observer) score, from baseline to week 48. HRQoL was assessed using the Pediatric Quality of Life Inventory Generic Core, Family Impact, and Multidimensional Fatigue scale scores, which were collected via the caregiver. The minimal clinically important difference for HRQoL ranged from 4 to 5 points, depending on the scale. RESULTS: Twenty of the 27 patients (74%) included in this analysis achieved an Itch-Reported Outcome (Observer) treatment response at week 48. The mean (SD) change in Multidimensional Fatigue score was +25.8 (23.0) for responders vs -3.1 (19.8) for nonresponders (P = .03). Smaller and non-statistically significant mean changes were observed for the Pediatric Quality of Life Inventory Generic Core and Family Impact scores. Controlling for baseline Family Impact score, responders' Family Impact scores increased an average of 16.9 points over 48 weeks compared with non-responders (P = .05). Smaller and non-statistically significant point estimates were observed for the Pediatric Quality of Life Inventory Generic Core and Multidimensional Fatigue scores. CONCLUSION: The significant improvements in pruritus seen with maralixibat at week 48 of the ICONIC study are clinically meaningful and are associated with improved HRQoL. TRIAL REGISTRATION: ClinicalTrials.gov: NCT02160782.

The Family Impact of Atopic Dermatitis in the Pediatric Population: Results from an International Cross-sectional Study.

OBJECTIVE: To evaluate the impact of atopic dermatitis on families of pediatric patients. STUDY DESIGN: This cross-sectional, web-based survey of children/adolescents (6 months to <18 years old) with atopic dermatitis and their parents and caregivers was conducted in 18 countries encompassing North America, Latin America, Europe, Middle East/Eurasia, and East Asia. Children and adolescents with atopic dermatitis and their parents and caregivers were identified by the International Study of Asthma and Allergies in Childhood criteria and ever being told by a physician that they had "eczema". Atopic dermatitis severity was assessed using the Patient-Oriented Eczema Measure and the Patient Global Assessment. Atopic dermatitis impact on families' lives was evaluated using the Dermatitis Family Impact questionnaire and stand-alone questions on hours of atopic dermatitis-related care (past week) and missed work days (past 4 weeks) owing to their child's atopic dermatitis. RESULTS: A total of 7465 pairs of pediatric participants with atopic dermatitis and their parents or caregivers were surveyed. Across age groups, the Dermatitis Family Impact questionnaire total score for all regions ranged from 7.1 to 8.6, 13.2 to 14.9, and 17.0 to 17.2 for Patient-Oriented Eczema Measure mild, moderate, and severe atopic dermatitis, respectively. Subscale scores showed that greater atopic dermatitis severity had a greater impact on all family life domains, including sleep and tiredness. No specific patterns or trends were observed across age groups. Time spent on childcare and missed work days increased with atopic dermatitis severity. CONCLUSIONS: Across pediatric age groups and geographic regions, greater atopic dermatitis severity was associated with a greater negative impact on physical, emotional, social, and economic components of family life.

Qualidade de vida relacionada à saúde dos pais/responsáveis por crianças/adolescentes em tratamento para leucemia ou linfoma / Health-related quality of life of parents or caregivers responsible for children or adolescents in treatment for leukemia or lymphoma

Ao longo dos anos o câncer infanto-juvenil evoluiu de uma doença inevitavelmente fatal para uma condição crônica de saúde com risco de vida. A redução da taxa de mortalidade em decorrência da doença, se deu devido ao avanço contínuo da medicina e da eficácia dos tratamentos disponíveis. Os tipos de câncer mais prevalentes na infância são a leucemia e o linfoma, que podem levar até 3 anos de quimioterapia, variando entre fases mais e menos intensas. O extenso período do tratamento pode ser desgastante para o paciente e para o núcleo familiar, levando em consideração o número de consultas, internações, os sintomas que a própria doença pode causar e os efeitos colaterais advindos das medicações. Para avaliar o impacto que esses agravantes podem ter na qualidade de vida relacionada à saúde (QVRS) do paciente e da família, são necessárias pesquisas focadas na percepção e relato do próprio indivíduo (PROs). Desta forma, o objetivo do presente estudo foi identificar o impacto que a leucemia/linfoma e seu tratamento nas crianças/adolescentes podem causar na qualidade de vida dos pais/responsáveis e na família. Foi realizado um estudo transversal com amostra não probabilística de 52 famílias com crianças/adolescentes em tratamento para leucemia ou linfoma no Hospital das Clínicas da UFMG, Belo Horizonte, Brasil. Os responsáveis responderam sobre questões socioeconômicas e demográficas, e perguntas específicas da doença e do tratamento. O instrumento escolhido para mensurar o impacto da leucemia ou linfoma na QVRS dos familiares, foi a versão brasileira do PedsQLTM Family Impact Module. Foram realizadas análise descritiva dos dados e regressão logística bivariada e múltipla (IC 95%, P<0,05), usando o programa SPSS. As mães foram as principais respondentes responsáveis pelo paciente em tratamento (78,8%), a renda familiar mensal de 51,9% dos participantes era de até 1 salário mínimo e 65,4% compartilhavam a moradia com até 4 pessoas. Das crianças/adolescentes 88,5% estavam em tratamento para leucemia e 42,3% eram do sexo feminino. A análise múltipla revelou que a mãe, quando responsável pelo paciente em tratamento, possuía 13,9 vezes mais chances de apresentar maior impacto negativo na QVRS do que quando o responsável era representado por outra pessoa (OR=13,89 95%IC: 1,39-138,92; p=0,025). Outras variáveis independentes não estiveram associadas com impacto na QVRS das famílias. Considerando o autorrelato dos pais/responsáveis sobre o funcionamento parental, o maior impacto negativo foi relacionado com a preocupação (média=46,2; DP±25,56). Os domínios sobre funcionamento familiar "Atividades Cotidianas" e "Relacionamentos Familiares" apresentaram médias 64,4 (DP±36,60) e 84,4 (DP±25,25) respectivamente, representando maior comprometimento relacionado às atividades desenvolvidas no dia-a-dia, do que nos relacionamentos. Conclui-se que o câncer infantil e seu tratamento repercutem na QVRS da família. A mãe quando principal responsável pela criança/adolescente com câncer, apresenta mais chances de perceber o impacto negativo que a doença e o tratamento podem trazer ao núcleo familiar.

Throughout the years, pediatric cancer has evolved from a fatal disease to a chronic health condition with life threat. The reduction in the disease's mortality rate is due to the continuous advances in the field of medicine and the efficiency of available treatments. The most prevalent types of children's cancer are leukemia and lymphoma, each require until 3 years of chemotherapy varying in intensity throughout different phases. The lengthy treatment can be wearing to the patient and their families, considering the number of medical appointments, hospitalizations, and symptoms: adverse from the medication, and from the disease itself. To evaluate the impact that the aggravating factors can have on the patient's and related families' Health-Related Quality of Live (HRQoL) research focused on self-report is required. As so this study's objective is to identify the psychosocial impact that leukemia/lymphoma and its treatment in children/adolescents can cause in the parents/guardians and family's lives. A cross-sectional study was conducted with a non-probability sample of 52 families with children/adolescents under treatment for leukemia or lymphoma at a reference hospital in Belo Horizonte, Brazil. The parents/guardians answered questions about their socioeconomical and demographical status and questions related to the disease, and its treatments. The Brazilian version of PedsQLTM Family Impact Module was also used to measure the possible impact of leukemia and lymphoma on the HRQoL of families. The descriptive data analysis, bivariate logistics regression, and multiple logistics regression was made with the SPSS software (IC 95%, p<0,05). In most of the studied subjects the mother was the main guardian of the patient (78.8%), the monthly income of 51.9% of the families was 1 minimum wage salary and 65,4% shared their home with up to 4 people. From the children/adolescents 88,5% were being treated for leukemia and 42,3% were female. The multiple analysis that when the mother was the person responsible for the patient there was a chance 13,9 times higher of a greater negative impact to the HRQoL when compared to when the guardian was a different person (OR=13,89; 95%IC: 1,39-138,92; p=0,025). Other independent variables where not associated with the impact on the HRQoL of families. Considering the parents/guardians proxy-report on the parental function, the biggest negative impact was related to worry (mean=46,2; SD±25,56). The family function domains "Daily Activities" and "Family Relationships" had means of 64,4 (SD±36,60) and 84,4 (SD±25,25) respectively, exhibiting a greater impairment in the daily activities than in relationships. It is concluded that childhood cancer and its treatment affect the family's HRQoL. When the mother is primarily responsible for the child/adolescent with cancer, she is more likely to perceive the negative impact that the disease and its treatment can bring to the family nucleus.

Associations between Infant and Parent Characteristics and Measures of Family Well-Being in Neonates with Seizures: A Cohort Study.

OBJECTIVE: To characterize and determine risk factors for key dimensions of well-being at hospital discharge in families of neonates with acute symptomatic seizures. STUDY DESIGN: This prospective, observational cohort study enrolled 144 parent-infant dyads among neonates with acute symptomatic seizures from 9 pediatric hospitals in the Neonatal Seizure Registry. One parent per family completed a discharge survey, which included measures of anxiety and depression, health-related quality of life, and impact on the family. Multivariable regression analyses adjusted for site were constructed to examine parent and infant characteristics associated with well-being. RESULTS: At discharge, 54% of parents reported symptoms of anxiety and 32% reported symptoms of depression. Parents of infants with hypoxic-ischemic encephalopathy reported more depression and worse quality of life than parents of infants with other seizure etiologies. Parental quality of life was also lower with greater infant age at discharge. A higher level of maternal education was associated with greater impact on the family. All these differences were medium to large effect sizes, ranging from 0.52 to 0.78. CONCLUSIONS: Symptoms of anxiety and depression are common in parents of infants with neonatal seizures, and several parent and infant characteristics are associated with poorer parental quality of life and family well-being. These findings are a call to action to improve mental health screening and services for parents of infants with neonatal seizures.

Psychological distress in ethnic minority parents of preschool children with burns.

BACKGROUND: Literature indicates that children from ethnic minorities are at increased risk of sustaining burns. Moreover, parents may experience more psychological distress but why this is the case is poorly investigated. METHODS: A prospective study including 120 mothers and 106 fathers of preschool children, of which 23 mothers and 24 fathers had an ethnic minority background, investigated levels of parental feelings of guilt, depressive and posttraumatic stress symptoms and compared Dutch parents with parents from different ethnic backgrounds on these outcomes. A qualitative study with 46 parents, 24 Dutch and 22 from different ethnic minority backgrounds, explored how they coped with the consequences of the burns. RESULTS: Results revealed more symptoms of posttraumatic stress and depression in ethnic minority parents. Ethnic minority fathers also had more guilt feelings. Lower social support, medical communication hampered by language barriers, lower health literacy and passive communication styles, (aspects of) religious coping and barriers to psychosocial care may partly explain the differences. CONCLUSIONS: Parents with an ethnic minority background are at risk to experience increased distress after their child's burn injury. By exploring the aforementioned factors, health care professionals may increase the family's wellbeing. It may provide a starting point to offer tailored help.

Repercusión del envejecimiento en el funcionamiento familiar / Impact of aging in family functioning

Introducción: Las transformaciones demográficas por las que transita la familia cubana afectan su dinámica y composición. El envejecimiento lo visualizan como una carga por sus implicaciones socioeconómicas y psicológicas, y no como una conquista social. Objetivo: Determinar la repercusión del envejecimiento en familias del policlínico Universitario Marcio Manduley durante el segundo semestre del año 2016. Métodos: Se realizó un estudio descriptivo, observacional, y transversal a 125 familias que fueron seleccionadas por conveniencia y deliberadamente, a las que se les aplicó el Instrumento de Impacto de Repercusión Familiar validado por la Dr. C. Patricia María Herrera Santi. La tabulación de los datos se hizo en números y porcentajes, agrupándose en tablas, para facilitar el análisis y discusión de la investigación. Resultados: El envejecimiento tuvo una repercusión negativa en más del 70 por ciento de la muestra estudiada en las áreas del desenvolvimiento de la vida diaria de la familia: el 72 por ciento en el área socioeconómica, el 70,4 por ciento en el área sociopsicológica y el 72,8 por ciento en el funcionamiento familiar y la salud individual de sus miembros. Conclusiones: El proceso de envejecimiento tiene una repercusión negativa en el funcionamiento de las familias con ancianos que precisan de cuidados especiales Los resultados de la investigación evidencian la necesidad de una cultura sobre la vejez para que pueda ser afrontada de forma favorable por las familias(AU)

Introduction: The demographic transformations that the Cuban family has gone through have affected family composition and dynamics. Aging is visualized as a burden due to its psychological and socio-economic implications and not as a social conquest. Objective: To determine the impact's level of aging in families of Marcio Manduley polyclinic during the second semester of 2016. Methods: A descriptive, observational, and cross-sectional study was conducted in 125 families selected by convenience and deliberately to which the Family Impact Instrument validated by Patricia Maria Herrera Santi, PhD was applied. Tabulation of the data was done in numbers and percentages and the results were showed in tables to facilitate the analysis and debate on the research. Results: Aging has a negative impact level in more than 70 percent of the families studied in the development of family daily life's areas: 72 percent in the socio-economic area, 70.4 percent in the socio-psychological area; and 72.8 percent. percent in family functioning and in the individual health of its members Conclusions: Aging process has a negative impact in the functioning of families with elders that need special care. The results of the research evidence the need of a culture on aging for this to be faced in a positive way by the families(AU)

Impacto familiar de la severidad de la dermatitis atópica en menores de 12 años / Family impact of the severity of atopic dermatitis in children under 12 years

Contexto: la dermatitis atópica es una enfermedad de etiología desconocida, con predisposición genética y participación de factores ambientales. Más del 80% de niños afectados debutan antes de los 5 años de edad. No se disponen en el país reportes que demuestren la relación entre la severidad de la enfermedad y el impacto familiar que genera la misma. Objetivo: determinar el grado de afectación familiar en niños diagnosticados de dermatitis atópica que acudieron a la consulta externa del "Centro de la Piel" y su relación con la severidad de la enfermedad. Diseño: estudio epidemiológico analítico transversal de período. Métodos y sujetos: el estudio se realizó en niños menores de 12 años que acudieron a la consulta médica del "Centro de la Piel", con diagnóstico de dermatitis atópica entre julio a noviembre del 2015. Se empleó un muestreo aleatorio simple para universo infinito con objetivo cualitativo. La severidad de la dermatitis atópica se clasificó según la escala validada SCORAD. El impacto familiar se determinó con el cuestionario del impacto familiar de la dermatitis DFI y la funcionalidad familiar con la escala de APGAR familiar. Lasasociaciones entre las variables estudiadas se resumieron con Odds Ratio de prevalencia (OR) y los correspondientes intervalos de confianza del 95% (IC 95%) obtenidos mediante distribución binomial. Para el contraste de hipótesis, se calculó el coeficiente de correlación de Pearson. Resultados: el estudio reveló que de los 145 participantes, 34 (23,45%) presentaron dermatitis atópica leve, 94 (64,83%) moderada y 17 (11,72%) severa. Se encontró que en más de la mitad de familias investigadas (57,24%) el impacto familiar de la enfermedad fue moderado, 33.1% leve y 9,66% severo. Al relacionar las variables, se demostró que el grado de afectación familiar es proporcional a la severidad de la dermatitis, estadísticamente significativa (valor p= <0,01). La esfera familiar de mayor afectación fue la económica evidenciándose la relación existente entre agravamiento del cuadro con el incremento de los gastos derivados del tratamiento (OR: 5,5; IC 95%: 2,4-12,6). Conclusión: la severidad de la dermatitis atópica se relacionó significativamente con el nivel de impacto familiar percibido por el cuidador. (AU)

Context: Atopic dermatitis is a disease of unknown etiology, with genetic predisposition and participation of environmental factors. More than 80% of affected children debu-tan before 5 years of age. There are no reports in the country that demonstrate the relationship between the severity of the disease and the family impact generated by it. Objective: to determine the degree of family involvement in children diagnosed with atopic dermatitis who attended the outpatient clinic of the "Skin Center" and its relationship with the severity of the disease. Design: cross-sectional analytical epidemiological study of period. Methods and subjects: the study was conducted in children under 12 years of age who attended the "Skin Center" medical consultation, with a diagnosis of atopic dermatitis from July to November 2015. Simple random sampling was used. for infinite universe with qualitative objective. MAIN MEASUREMENTS: the severity of atopic dermatitis was classified according to the SCORAD scale. The family impact was determined with the family impact questionnaire of DFI dermatitis and family functionality with the family APGAR scale. The associations between the variables studied were summarized with Odds Prevalence Ratio (OR) and the corresponding 95% confidence intervals (95% CI) obtained by binomial distribution. For the hypothesis test, the Pearson correlation coefficient was calculated. Results: the study revealed that of the 145 participants, 34 (23.45%) presented mild atopic dermatitis, 94 (64.83%) moderate and 17 (11.72%) severe. It was found that in more than half of the families investigated (57.24%) the family impact of the disease was moderate, 33.1% mild and 9.66% severe. By relating the variables, it was shown that the degree of family involvement is proportional to the severity of the dermatitis, statistically significant (p value = <0.01). The most affected family sphere was the economic one, showing the relationship between worsening of the table and the increase in the expenses derived from the treatment (OR: 5.5, 95% CI: 2.4-12.6). Conclusion: the severity of atopic dermatitis was significantly related to the level of family impact perceived by the caregiver. (AU)

Impact on family and parental stress of prenatal vs postnatal repair of myelomeningocele.

BACKGROUND: The Management of Myelomeningocele Study was a multicenter, randomized controlled trial that compared prenatal repair with standard postnatal repair for fetal myelomeningocele. OBJECTIVE: We sought to describe the long-term impact on the families of the women who participated and to evaluate how the timing of repair influenced the impact on families and parental stress. STUDY DESIGN: Randomized women completed the 24-item Impact on Family Scale and the 36-item Parenting Stress Index Short Form at 12 and 30 months after delivery. A revised 15-item Impact on Family Scale describing overall impact was also computed. Higher scores reflected more negative impacts or greater stress. In addition, we examined Family Support Scale and Family Resource Scale scores along with various neonatal outcomes. Repeated measures analysis was conducted for each scale and subscale. RESULTS: Of 183 women randomized, 171 women completed the Impact on Family Scale and 172 completed the Parenting Stress Index at both 12 and 30 months. The prenatal surgery group had significantly lower revised 15-item Impact on Family Scale scores as well as familial-social impact subscale scores compared to the postnatal surgery group (P = .02 and .004, respectively). There was no difference in total parental stress between the 2 groups (P = .89) or in any of the Parenting Stress Index Short Form subscales. In addition, walking independently at 30 months and family resources at 12 months were associated with both family impact and parental stress. CONCLUSION: The overall negative family impact of caring for a child with spina bifida, up to 30 months of age, was significantly lower in the prenatal surgery group compared to the postnatal surgery group. Ambulation status and family resources were predictive of impact on family and parental stress.

Qualidade de vida relacionada à saúde bucal em crianças com anemia falciforme e suas famílias: há uma correlação entre o relato de pais e filhos? / Oral Health-related Quality of Life in children with Sickle Cell Disease and your Family: There is a correlation between the reports of parents and children?

O objetivo deste estudo foi determinar a correlação filho-pais na avaliação da qualidade de vida relacionada à saúde bucal de crianças e de suas famílias e determinar as características associadas a essa correlação em uma população pediátrica com anemia falciforme. Foi realizado um estudo transversal com 106 crianças, de 8 a 14 anos, com diagnóstico de anemia falciforme (AF), no estado de Minas Gerais, Brasil, e seus pais/cuidadores. Estas crianças estavam fazendo acompanhamento de saúde na Fundação Centro de Hematologia e Hemoterapia de Minas Gerais (Hemominas). A qualidade de vida relacionada à saúde bucal (QVRSB) foi mensurada, utilizando-se as versões brasileiras dos instrumentos Child Perception Questionnaire para crianças de 8 a 10 anos (CPQ8-10) e de 11 a 14 anos (versão curta do CPQ11-14), o Parental-Caregiver Perceptions Questionnaire (P-CPQ) e o Family Impact Scale (FIS). Um dentista calibrado realizou os exames clínicos bucais para avaliação da experiência de cárie dentária, má oclus¿o e sangramento gengival, segundo os critérios da Organização Mundial de Saúde (OMS). As informações sobre a AF, as características sócio-demográficas e econômicas foram obtidas por meio de entrevistas realizadas com os pais/responsáveis pelas crianças. Os dados foram analisados por meio do teste de correlação de Spearman e regressão linear. Houve uma forte correlação entre P-CPQ e FIS (rs=0,732). Foi observada correlação moderada entre as avaliações de QVRSB realizadas pela criança (CPQ) e pelo pai-proxy (P-CPQ) (rs=0,433). Ao se analisar a correlação entre a avaliação da QVRSB realizada pelas crianças (CPQ) e o impacto na família (FIS) relatado pelos pais, observou-se uma correlação fraca (rs=0,331). Maiores diferenças no z-escore entre P-CPQ e FIS foram associadas com a menor idade do filho (p<0,01), mais baixa espiritualidade/religiosidade (p<0,05), menor renda familiar (p<0,01) e severidade da má oclusão dentária (p<0,05)...

More recently, there has been increasing interest in the oral health-related quality of life (OHRQoL) of children, since pediatric oral disorders are likely to have a negative effect on the child quality of life (QoL). One issue that receives a great deal of attention is the comparison of the measurement of children OHRQoL reports with those of their parents. In this way, three systematic reviews were carried out to review the literature on valid and reliable informations from children and parents concerning child OHRQoL, and to identify the pattern of agreement/disagreement between their reports. The literature was searched using Medline, ISI, Lilacs and Scielo, from 1985-2007. Two researchers independently checked and then selected only articles that used well-validated instruments, provided quantitative measurements of child clinical oral health status, and presented children and parental perceptions of child OHRQoL. In the first systematic review, from 89 records found, thirteen fulfilled the criteria. All selected studies suggested good construct validity. However, child understanding of oral health and well-being are affected by age, age-related experiences, gender, race, education, culture, experiences related to oral conditions, opportunities for treatment, childhood period of changes, back-translating questionnaire and child self-perceived treatment need. Twelve of 402 articles originally identified were included in the second systematic review. The results showed that the relationships between clinical oral health status and QoL in children were not direct, but mediated by a variety of personal, social and environmental variables, as well as by the child development, which have influence on the comprehension about the relationship among health, illness and QoL. In the third one, out of 87 articles that were critically assessed, five studies were selected ...

Impacto familiar e ajustamento de pais de crianças com diagnóstico de anomalia congênita: influência dos determinantes da criança / Family impact and individual adjustment of parents of children with a diagnosis of congenital anomaly: the influence of the child's determinants

INTRODUÇÃO: A ocorrência de diagnóstico pré ou pós-natal de anomalia congênita (AC) num filho pode implicar mudanças na dinâmica e no funcionamento da família, bem como ter um importante impacto no ajustamento individual dos pais. OBJETIVOS: Este estudo teve como objetivos avaliar a sobrecarga parental e ajustamento individual de pais de crianças com diagnóstico de AC e compreender a variabilidade da adaptação dos pais (sobrecarga e ajustamento individual) em função dos determinantes da criança. MÉTODOS: A amostra foi constituída por 124 participantes (62 casais), pais de crianças com diagnóstico de AC. O protocolo de avaliação incluiu a Escala de Impacto Familiar, o Brief Symptom Inventory e o Instrumento de Avaliação de Qualidade de Vida da Organização Mundial de Saúde (WHOQOL-Bref). RESULTADOS: As mães reportaram maiores níveis de sintomatologia psicopatológica e menor percepção de qualidade de vida. Encontraram-se, ainda, efeitos significativos dos determinantes da criança, nomeadamente da idade da criança no ajustamento paterno e da percepção de gravidade da anomalia no ajustamento paterno e na sobrecarga materna. O conhecimento do diagnóstico após o nascimento e as anomalias cromossômicas mostraram-se, em ambos os pais, correlacionados com maior percepção de sobrecarga global e financeira. CONCLUSÃO: Os resultados salientam a complexidade do ajustamento dos pais ao diagnóstico de anomalia congênita de um filho, na qual interagem diversos fatores, em particular os associados com o diagnóstico da criança.

BACKGROUND: The occurrence of a pre- or postnatal diagnosis of a congenital anomaly may imply changes in the family dynamics and functioning, and may have an important impact on the parents' individual adjustment. OBJECTIVES: This study aimed to assess the perceived burden and individual adjustment of parents whose child has a congenital anomaly, and to examine the variability of parental adaptation (burden and individual adjustment) as a function of the child's characteristics. METHODS: The sample comprised 124 parents (62 couples), whose child has a congenital anomaly. The assessment protocol included the Impact on Family Scale, the Brief Symptom Inventory, and the World Health Organization quality of life instrument (WHOQOL-Bref). RESULTS: Mothers reported higher scores on psychopathological symptoms and lower scores on quality of life than fathers. A significant effect of child's age in the paternal adaptation was found; the perception of the severity of the anomaly was significantly associated with paternal adjustment and with maternal burden. In both parents, the timing of diagnosis and the type of congenital anomaly were significantly correlated with global and financial burden. DISCUSSION: These findings support the complexity of the parents' adaptation when parenting a child with a congenital anomaly, in which several factors interact, particularly those associated with the child's diagnosis.