Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening

Akkuş, Pınar; Çıkı, Kısmet; Yeşil, Ayşe Mete; Bahadur, Evin İlter; Karahan, Sevilay; Özmert, Elif Nursel; Sivri, Serap

doi:10.1007/s00431-020-03740-2

Cited by 6 publications

(4 citation statements)

References 23 publications

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“…Treatment with pharmacologic doses of biotin is straightforward and effective, leading to excellent outcomes when treatment is started before symptom onset. 10,11 In a recent study, Zengin Akkus et al 12 found no difference between early treated children with BIOT and their unaffected peers in terms of developmental and behavioral outcomes.…”

Section: Example Conditionsmentioning

confidence: 96%

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

Reynolds

Blanchard

Jalazo

et al. 2023

J Dev Behav Pediatr

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Objectives: The purpose of this study is to explore which newborn screening (NBS) conditions are automatically eligible for early intervention (EI) across states and to determine the extent to which each disorder should automatically qualify for EI because of a high probability of developmental delay. Methods: We examined each state's EI eligibility policy and reviewed the literature documenting developmental outcomes for each NBS condition. Using a novel matrix, we assessed the risk of developmental delay, medical complexity, and risk of episodic decompensation, revising the matrix iteratively until reaching consensus. Three NBS conditions (biotinidase deficiency, severe combined immunodeficiency, and propionic acidemia) are presented in detail as examples. Results: Most states (88%) had Established Conditions lists to autoqualify children to EI. The average number of NBS conditions listed was 7.8 (range 0-34). Each condition appeared on average in 11.7 Established Conditions lists (range 2-29). After the literature review and consensus process, 29 conditions were likely to meet national criteria for an Established Condition. Conclusion: Despite benefiting from NBS and timely treatment, many children diagnosed with NBS conditions are at risk for developmental delays and significant medical complexity. The results demonstrate a need for more clarity and guidance regarding which children should qualify for EI. We suggest that most NBS conditions should automatically qualify based on the probability of resulting in a developmental delay. These findings suggest a future opportunity for collaboration between NBS and EI programs to create a consistent set of Established Conditions, potentially expediate referrals of eligible children, and streamline children's access to EI services.

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Section: Example Conditionsmentioning

confidence: 96%

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

Reynolds

Blanchard

Jalazo

et al. 2023

J Dev Behav Pediatr

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“…Although all NBS conditions benefit from early detection, many children still experience developmental or health challenges [29]. New transformative treatments (e.g., cell therapies, gene therapy, gene editing) address the underlying cause of a condition rather than symptoms and have the potential to be curative or substantially disease-altering.…”

Section: Build a Network Of Nbs Research Centersmentioning

confidence: 99%

A Window of Opportunity for Newborn Screening

Bailey

2022

Mol Diagn Ther

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Molecular diagnostics and therapies play a central role in an era of precision medicine, with the promise of more accurate diagnoses and more effective treatments. Universal newborn screening (NBS) identifies those health conditions that must be treated in early life and before clinical symptoms become apparent, to maximize effectiveness, prevent morbidity, and reduce or eliminate mortality. However, enthusiasm about NBS as the logical platform for early identification is tempered by the realization that NBS under public health authority exists in a complex ecology in which technology and medicine intersect with politics, ethics, advocacy, and resource constraints-a classic translational challenge that is exacerbated when considering the possible introduction of genome sequencing and molecular therapies in NBS. Substantial change is inevitable if the current model of NBS can be prepared for an envisioned future of greatly expanded molecular diagnostics and therapies. A window of opportunity for modernization now exists, but what changes are needed? The purpose of this commentary is to identify five major initiatives to stimulate focused discussion on how modernization might be achieved: (1) build systems for more rapid collection and integration of extant data relevant to NBS; (2) establish a national network of NBS research centers to design and conduct prospective research studies addressing critical NBS questions; (3) create a network of regional NBS laboratories to expedite state implementation of new methodologies or screening for newly recommended conditions; (4) establish a new stream of federal funding to provide financial support for states and incentivize national harmonization; and (5) integrate solutions in a way that is strategic and effective. Some aspects of these recommendations suggest that radical policy changes are needed to implement molecular testing in NBS and take advantage of emerging molecular therapies. I focus on recommendations for modernizing NBS in the US, some of which may be applicable in other countries.

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“…The Child Behavior Check List (CBCL) was completed by parents. Likewise, the sociodemographic characteristics and CBCL scores of 23 control group children who met all of the following inclusion criteria were established from the control groups of two studies conducted at Hacettepe University Department of Developmental Pediatrics in 2019 (15,16). The following tools were used to conduct screening for developmental and behavioral issues.…”

Section: Introductionmentioning

confidence: 99%

COVID-19 Pandemisinin Türkiye’de Tipik Gelişen Çocukların Uzun Dönem Davranış Sorunları Üzerindeki Etkisi

Omercioglu

HAJİYEVA>

Yeşil

et al. 2023

Türkiye Çocuk Hast Derg

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Objective: Pandemics such as COVID 19, cause severe stress for both parents and children due to social constraints, changes in daily routines, and economic challenges, and can lead to long-term developmental and behavioral problems in children. We evaluated the behavioral problems of typically developing healthy children at the end of the second year of the pandemic, as well as the effect of family sociodemographic characteristics. Materials and Methods: This case-control study included 28 children between the ages of 18 to 60 months who admitted to Hacettepe University İhsan Doğramacı Children’s Hospital between January and February 2022 and 23 children from the pre-pandemic period. All of the children scored normally on the Ages and Stages Questionnaire (ASQ) in all developmental domains. The Child Behavior Check List (CBCL) was completed by parents. Results: In terms of family sociodemographic characteristics, no significant difference existed between the two groups. Anxiety-depression scores were significantly higher in the post-pandemic group once CBCL scores were assessed (p=0.047). In the final stepwise multiple regression model, maternal education level was significantly associated with lower anxiety-depression scores (p=0.030). It was revealed that a maternal education level above high school reduced the anxiety-depression scores by 2.53 points in the post-pandemic group. Conclusions: Families, pediatricians, and all other healthcare providers need to closely monitor preschoolers, who are among the groups most vulnerable to the negative effects of the pandemic. Additionally, new policies are required to eliminate health and social inequalities that deepen during the pandemic, especially in middle income and developing countries.

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Developmental and behavioral outcomes of preschool-aged children with biotinidase deficiency identified by newborn screening

Cited by 6 publications

References 23 publications

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

A Window of Opportunity for Newborn Screening

COVID-19 Pandemisinin Türkiye’de Tipik Gelişen Çocukların Uzun Dönem Davranış Sorunları Üzerindeki Etkisi

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