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  • 1
    Online Resource
    Online Resource
    Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder
    Rockefeller University Press ; 2022
    In:  Journal of Experimental Medicine Vol. 219, No. 9 ( 2022-09-05)
    Details
    In: Journal of Experimental Medicine, Rockefeller University Press, Vol. 219, No. 9 ( 2022-09-05)
    Abstract: The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed behavioral deficits in all ASD domains. The patient and the mouse model showed aberrant cerebellar foliation and severely impaired sensorimotor learning. PAX5 deficiency also caused profound hypoplasia of the substantia nigra and ventral tegmental area due to loss of GABAergic neurons, thus affecting two midbrain hubs, controlling motor function and reward processing, respectively. Heterozygous Pax5 mutant mice exhibited similar anatomic and behavioral abnormalities. Lineage tracing identified Pax5 as a crucial regulator of cerebellar morphogenesis and midbrain GABAergic neurogenesis. These findings reveal new roles of Pax5 in brain development and unravel the underlying mechanism of a novel immunological and neurodevelopmental syndrome.
    Type of Medium: Online Resource
    ISSN: 0022-1007 , 1540-9538
    URL: Article
    DOI: 10.1084/jem.20220498
    RVK:
    XA 10000
    Language: English
    Publisher: Rockefeller University Press
    Publication Date: 2022
    detail.hit.zdb_id: 1477240-1
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  • 2
    Online Resource
    Online Resource
    Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1
    SAGE Publications ; 2022
    In:  Journal of Attention Disorders Vol. 26, No. 4 ( 2022-02), p. 563-572
    Details
    In: Journal of Attention Disorders, SAGE Publications, Vol. 26, No. 4 ( 2022-02), p. 563-572
    Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults. Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Results: The NF1 and control group performed similarly on attention and motor learning tasks, although controls had shorter reaction times than adults with NF1 during the motor learning task ( t[60] = −2.20, p = .03). Measures of attention or motor learning were not significantly associated with reduced intellectual performance in NF1. Conclusion: In contrast to many studies in children with NF1, our findings did not provide evidence for presence of attention or motor learning problems in adults with NF1 in neuropsychological tasks. Our observations may be of clinical importance to determine treatment focus in adults with NF1.
    Type of Medium: Online Resource
    ISSN: 1087-0547 , 1557-1246
    URL: Article
    DOI: 10.1177/10870547211012035
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2022
    detail.hit.zdb_id: 2188086-4
    SSG: 5,2
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  • 3
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    Future paradigms for precision oncology
    Impact Journals, LLC ; 2016
    In:  Oncotarget Vol. 7, No. 29 ( 2016-07-19), p. 46813-46831
    Details
    In: Oncotarget, Impact Journals, LLC, Vol. 7, No. 29 ( 2016-07-19), p. 46813-46831
    Type of Medium: Online Resource
    ISSN: 1949-2553
    URL: Issue
    URL: Article
    DOI: 10.18632/oncotarget.v7i29
    DOI: 10.18632/oncotarget.9488
    Language: English
    Publisher: Impact Journals, LLC
    Publication Date: 2016
    detail.hit.zdb_id: 2560162-3
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  • 4
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    Worries and needs of adults and parents of adults with neurofibromatosis type 1
    Wiley ; 2018
    In:  American Journal of Medical Genetics Part A Vol. 176, No. 5 ( 2018-05), p. 1150-1160
    Details
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 176, No. 5 ( 2018-05), p. 1150-1160
    Abstract: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow‐up of adults with NF1 often focuses on tumor growth, follow‐up of cognitive or social problems and other NF1‐related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. A qualitative study was performed using semi‐structured group interviews, exploring worries and care needs in medical, psychological, and socioeconomic domains, also focusing on the transition from pediatric to adult care. Four focus groups were conducted, including young adult patients, patients over age 30, and parents of young adult patients. In total, 30 patients and 12 parents participated. Data were transcribed verbatim and analyzed by computerized thematic analysis. Themes were organized using the World Health Organization International classification of functioning, disability, and health (ICF). Results indicated many and diverse worries and care needs both during the transitional period and in adulthood in medical, mental health, and socioeconomic domains. Worries could be categorized into 13 themes. Parents reported high stress levels and difficulties with their parental role. Participants expressed the need for more information, access to NF1 experts, daily living support, care for mental health and socioeconomic participation, and closer communication between health‐care providers. In conclusion, worries and needs of patients and parents underline the importance of multidisciplinary follow‐up and continuity of care during and after the transitional period. Additionally, parental stress requires more attention from care providers.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    URL: Article
    DOI: 10.1002/ajmg.a.v176.5
    DOI: 10.1002/ajmg.a.38680
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 5
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    Online Resource
    Neuropsychological and Psychosocial Functioning of Children with Perinatal HIV-Infection in The Netherlands
    MDPI AG ; 2021
    In:  Viruses Vol. 13, No. 10 ( 2021-09-28), p. 1947-
    Details
    In: Viruses, MDPI AG, Vol. 13, No. 10 ( 2021-09-28), p. 1947-
    Abstract: Advances in antiretroviral treatment improved the life expectancy of perinatally HIV-infected children. However, growing up with HIV provides challenges in daily functioning. This cross-sectional cohort study investigated the neuropsychological and psychosocial functioning of a group of perinatally HIV-infected children in the Netherlands and compared their outcomes with Dutch normative data and outcomes of a control group of uninfected siblings. The children’s functioning was assessed with internationally well-known and standardized questionnaires, using a multi-informant approach, including the perspectives of caregivers, teachers, and school-aged children. In addition, we explored the associations of socio-demographic and medical characteristics of the HIV-infected children with their neuropsychological and psychosocial functioning. Caregivers reported compromised functioning when compared to Dutch normative data for HIV-infected children in the areas of attention, sensory processing, social-emotional functioning, and health-related quality of life. Teachers reported in addition compromised executive functioning for HIV-infected children. A comparison with siblings revealed differences in executive functioning, problems with peers, and general health. The concurrent resemblance between HIV-infected children and siblings regarding problems in other domains implies that social and contextual factors may be of influence. A family-focused approach with special attention to the child’s socio-environmental context and additional attention for siblings is recommended.
    Type of Medium: Online Resource
    ISSN: 1999-4915
    URL: Article
    DOI: 10.3390/v13101947
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2516098-9
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  • 6
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    The DUX-25 after Twenty-Five Years: New Analyses and Reference Data
    MDPI AG ; 2022
    In:  Children Vol. 9, No. 10 ( 2022-10-17), p. 1569-
    Details
    In: Children, MDPI AG, Vol. 9, No. 10 ( 2022-10-17), p. 1569-
    Abstract: Twenty-five years after its inception, we present new analyses and reference data for the DUX-25, a questionnaire on health-related quality of life for children 8–17 years old and their parents as proxy. Data from 774 healthy children and their caregivers were collected through web-based data collection. Participants were recruited via primary and secondary schools in the Netherlands. The DUX-25 showed adequate psychometric qualities. Using exploratory and confirmatory factor analyses, we were able to support the theorized four-factor model. In addition, a model with five factors emerged in which the factor ‘Social’ was divided into ‘Social Close’ and ‘Social Far’. A comparison of the outcomes of the PedsQL with those of the DUX-25 provides evidence for a high construct validity of the DUX-25. With the new updated reference data, the DUX-25 can still be used in inpatient and outpatient settings to measure health-related quality of life of children with chronic conditions.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    URL: Article
    DOI: 10.3390/children9101569
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2732685-8
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  • 7
    Online Resource
    Online Resource
    Neurobiologic Correlates of Attention and Memory Deficits Following Critical Illness in Early Life*
    Ovid Technologies (Wolters Kluwer Health) ; 2017
    In:  Critical Care Medicine Vol. 45, No. 10 ( 2017-10), p. 1742-1750
    Details
    In: Critical Care Medicine, Ovid Technologies (Wolters Kluwer Health), Vol. 45, No. 10 ( 2017-10), p. 1742-1750
    Abstract: Survivors of critical illness in early life are at risk of long-term–memory and attention impairments. However, their neurobiologic substrates remain largely unknown. Design: A prospective follow-up study. Setting: Erasmus MC-Sophia Children’s Hospital, Rotterdam, the Netherlands. Patients: Thirty-eight school-age (8–12 yr) survivors of neonatal extracorporeal membrane oxygenation and/or congenital diaphragmatic hernia with an intelligence quotient greater than or equal to 80 and a below average score ( z score ≤ –1.5) on one or more memory tests. Interventions: None. Measurements and Main Results: Intelligence, attention, memory, executive functioning, and visuospatial processing were assessed and compared with reference data. White matter microstructure and hippocampal volume were assessed using diffusion tensor imaging and structural MRI, respectively. Global fractional anisotropy was positively associated with selective attention ( β = 0.53; p = 0.030) and sustained attention ( β = 0.48; p = 0.018). Mean diffusivity in the left parahippocampal region of the cingulum was negatively associated with visuospatial memory, both immediate ( β = –0.48; p = 0.030) and delayed recall ( β = –0.47; p = 0.030). Mean diffusivity in the parahippocampal region of the cingulum was negatively associated with verbal memory delayed recall (left: β = –0.52, p = 0.021; right: β = –0.52, p = 0.021). Hippocampal volume was positively associated with verbal memory delayed recall (left: β = 0.44, p = 0.037; right: β = 0.67, p = 0.012). Extracorporeal membrane oxygenation treatment or extracorporeal membrane oxygenation type did not influence the structure-function relationships. Conclusions: Our findings indicate specific neurobiologic correlates of attention and memory deficits in school-age survivors of neonatal extracorporeal membrane oxygenation and congenital diaphragmatic hernia. A better understanding of the neurobiology following critical illness, both in early and in adult life, may lead to earlier identification of patients at risk for impaired neuropsychological outcome with the use of neurobiologic markers.
    Type of Medium: Online Resource
    ISSN: 0090-3493
    URL: Article
    DOI: 10.1097/CCM.0000000000002553
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2017
    detail.hit.zdb_id: 2034247-0
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  • 8
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    Parent-Reported Perceived Cognitive Functioning Identifies Cognitive Problems in Children Who Survived Neonatal Critical Illness
    MDPI AG ; 2022
    In:  Children Vol. 9, No. 6 ( 2022-06-16), p. 900-
    Details
    In: Children, MDPI AG, Vol. 9, No. 6 ( 2022-06-16), p. 900-
    Abstract: Children with congenital anatomical foregut anomalies and children treated with neonatal extracorporeal membrane oxygenation (ECMO) are at risk for neurocognitive morbidities. We evaluated the association between the parent-reported pediatric perceived cognitive functioning (PedsPCF) questionnaire and the parent-reported behavior rating inventory of executive function (BRIEF) as well as neuropsychological assessments (NPA). We included 8-, 12- and 17-year-old participants who had joined a prospective follow-up program between 2017 and 2019. Self- and parental proxy-reported PedsPCF and proxy-reported BRIEF scores and their mutual association were evaluated. In total, 168 participants were included. Self- and proxy-reported PedsPCF scores were significantly below normal (mean (SD) z-score: −0.35 (0.88), p 〈 0.001; −0.36 (1.06), p 〈 0.001, respectively). Total BRIEF scores were significantly above normal (mean (SD) z-score 0.33 (0.98), p 〈 0.001). Proxy-reported PedsPCF scores and the Metacognition Index subscores of the BRIEF correlated strongly (τ = 0.551, p 〈 0.001). Self-reported PedsPCF scores were not associated with NPA test scores. Proxy-reported PedsPCF scores were positively associated with multiple NPA test scores, especially intelligence (R2 = 0.141). The proxy-reported PedsPCF revealed cognitive problems more often than the BRIEF in school-aged children who had survived neonatal critical illness. The proxy-reported PedsPCF may support clinical decision-making regarding the need for extensive neuropsychological assessments.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    URL: Article
    DOI: 10.3390/children9060900
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2732685-8
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  • 9
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    Patient-Reported Outcome Measures and Clinical Outcomes in Children with Foregut Anomalies
    MDPI AG ; 2021
    In:  Children Vol. 8, No. 7 ( 2021-07-10), p. 587-
    Details
    In: Children, MDPI AG, Vol. 8, No. 7 ( 2021-07-10), p. 587-
    Abstract: Increasing numbers of children and adults with chronic disease status highlight the need for a value-based healthcare system. Patient-reported outcome measures (PROMs) are essential to value-based healthcare, yet it remains unclear how they relate to clinical outcomes such as health and daily functioning. We aimed to assess the added value of self-reported PROMs for health status (HS) and quality of life (QoL) in the long-term follow-up of children with foregut anomalies. We evaluated data of PROMs for HS and/or QoL among eight-year-olds born with congenital diaphragmatic hernia (CDH), esophageal atresia (EA), or congenital lung malformations (CLM), collected within the infrastructure of a multidisciplinary, longitudinal follow-up program. Clinical outcomes were categorized into different outcome domains, and their relationships with self-reported HS and QoL were assessed through multivariable linear regression analyses. A total of 220 children completed HS and/or QoL self-reports. In children with CDH and EA, lower cognition was significantly associated with lower self-reported HS. Due to the low number of cases, multivariable linear regression analysis was not possible in children with CLM. HS, QoL, and clinical outcomes represent different aspects of a child’s wellbeing and should be measured simultaneously to facilitate a more holistic approach to clinical decision making.
    Type of Medium: Online Resource
    ISSN: 2227-9067
    URL: Article
    DOI: 10.3390/children8070587
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2732685-8
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  • 10
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    Development and validation of a condition-specific quality of life instrument for adults with esophageal atresia: the SQEA questionnaire
    Oxford University Press (OUP) ; 2023
    In:  Diseases of the Esophagus Vol. 36, No. 6 ( 2023-05-27)
    Details
    In: Diseases of the Esophagus, Oxford University Press (OUP), Vol. 36, No. 6 ( 2023-05-27)
    Abstract: The importance of multidisciplinary long-term follow-up for adults born with esophageal atresia (EA) is increasingly recognized. Hence, a valid, condition-specific instrument to measure health-related quality of life (HRQoL) becomes imperative. This study aimed to develop and validate such an instrument for adults with EA. The Specific Quality of life in Esophageal atresia Adults (SQEA) questionnaire was developed through focus group-based item generation, pilot testing, item reduction and a multicenter, nationwide field test to evaluate the feasibility, reliability (internal and retest) and validity (structural, construct, criterion and convergent), in compliance with the consensus-based standards for the selection of health measurement instruments guidelines. After pilot testing (n = 42), items were reduced from 144 to 36 questions. After field testing (n = 447), three items were discarded based on item-response theory results. The final SQEA questionnaire (33 items) forms a unidimensional scale generating an unweighted total score. Feasibility, internal reliability (Cronbach’s alpha 0.94) and test–retest agreement (intra-class coefficient 0.92) were good. Construct validity was discriminative for esophageal replacement (P  & lt; 0.001), dysphagia (P  & lt; 0.001) and airway obstruction (P = 0.029). Criterion validity showed a good correlation with dysphagia (area under the receiver operating characteristic 0.736). SQEA scores correlated well with other validated disease-specific HRQoL scales such as the GIQLI and SGRQ, but poorly with the more generic RAND-36. Overall, this first condition-specific instrument for EA adults showed satisfactory feasibility, reliability and validity. Additionally, it shows discriminative ability to detect disease burden. Therefore, the SQEA questionnaire is both a valid instrument to assess the HRQoL in EA adults and an interesting signaling tool, enabling clinicians to recognize more severely affected patients.
    Type of Medium: Online Resource
    ISSN: 1120-8694 , 1442-2050
    URL: Article
    DOI: 10.1093/dote/doac088
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 2004949-3
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