Question 2 What is the incidence of biotin deficiency in preschool children with global developmental delay?

Ogundele, Michael

doi:10.1136/archdischild-2011-300411

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…The incidence of biotinidase deficiency on newborn screening suggests is low 20. Recommendations that routine testing is cost-effective26 are not evidence based. Our view is that serum biotinidase should only be performed second or third line in children with suggestive features.…”

Section: Discussionmentioning

confidence: 99%

Aetiological investigations in early developmental impairment: are they worth it?

et al. 2017

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Objective To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations. Design Retrospective case note review. setting Community, neurodisability and neurology department at a UK tertiary centre. Participants Children referred to determine the aetiology of EDI where a cause was not evident on history and examination. Participants were divided into two groups: EDI and no additional features (EDI−) and EDI with additional features (EDI+). Main outcome measures The frequency a cause was found for the child's EDI and which tests contributed to a diagnosis. results 699 participants, 68.8% boys, median age at investigation 2 years 8 months (range 3 months to 11 years 5 months). 61 (8.7%) of participants had no investigations, and children with EDI− were less likely to be investigated (χ 2 =12.5, p<0.05). A diagnosis was made in 166 children (23.7%) and was more frequent in EDI+ (EDI− 9.9%, EDI+ 27.3%, χ 2 =19.0; p<0.05). Full blood count, zinc protoporphyrin, renal or liver function, bone profile, biotinidase, creatine kinase or lead level revealed no diagnoses. The following investigations found causes for EDI: MRI (23.1%), microarray (11.5%), Fragile X (0.9%), plasma amino acids (1.2%), urine organic acids (0.9%) and thyroid function tests (0.5%). Conclusions The majority of 'screening' investigations for EDI do not contribute to a diagnosis, highlighting an area of cost saving for the NHS and reduced burden for patients and families. We propose a streamlined guideline for the investigation of EDI based on our data.

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Section: Discussionmentioning

confidence: 99%

Aetiological investigations in early developmental impairment: are they worth it?

et al. 2017

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“…Affected patients, if left untreated, can progress to metabolic decompensation, coma, or death [7]. Patients with partial BTD usually have milder symptoms during stress at a later stage, and the disease can remain undiagnosed in children presenting developmental delay [8] or autism [9]. Symptoms of biotinidase deficiency can be prevented by therapeutic doses of biotin (5–20 mg daily) [10, 11], but neurological deficits are not reversible once they occur [10, 12].…”

Section: Introductionmentioning

confidence: 99%

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Hsu

Chien

Hwu

et al. 2019

Orphanet J Rare Dis

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Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and phenotypes of patients diagnosed with biotinidase deficiency from a medical center were reviewed. The clinical manifestations, laboratory findings, and molecular test results were retrospectively analyzed. A total of 6 patients were evaluated. Three patients (50%) were diagnosed because of a clinical illness, and the other three (50%) were identified by newborn screening. In all patients, the molecular results confirmed the BTD mutation. The three patients with clinical manifestations had an onset of seizure at the age of 2 to 3 months. Two patients had respiratory problems (one with apnea under bilevel positive airway pressure (BiPAP) therapy at night, and the other with laryngomalacia). Hearing loss and eye problems were found in one patient. Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared to cases in the literature. None of the patients identified by the newborn screening program developed symptoms. Our findings highlight differences in the genotype and phenotype compared with those in Western countries. Patients with biotinidase deficiency benefit from newborn screening programs for early detection and management.

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“…To do this, we gave participants a case study of a fictitious condition called Cavorite deficiency, named after a mineral found in an HG Wells novel. Cavorite deficiency was modelled on biotinidase deficiency, which some clinicians state can present with EDI-, [ 14 ] and included the same incidence figures [ 26 ] and costs [ 22 ]. The final question presented the likely cost across the UK to diagnose one participant with Cavorite deficiency and whether they thought this was good value for money.…”

Section: Methodsmentioning

confidence: 99%

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

Atherton

Hart

2022

BMC Pediatr

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Background Early developmental impairment (EDI) is common and has many aetiologies and, therefore, potential investigations. There are several published guidelines recommending aetiological investigations, and paediatricians’ views of them varies. Little is known on the thought processes underlying clinical decisions in investigating EDI. This study aimed to describe the thought processes affecting clinical decisions on the investigation of EDI within a nationalised health care system. Methods A qualitative descriptive study using semi-structured qualitative interviews performed in person or via video link with paediatricians who see children with EDI in England. As part of the interview, a case study of a fictional disease, Cavorite deficiency, modelled on biotinidase deficiency, was given to participants with the cost of testing, incidence and likelihood it would respond to treatment. This allowed exploration of cost without encumbrance from predisposing views and training on the condition. Thematic analysis was performed by iterative approach. Where participants stated they wanted to redirect money from investigations to treatment, were that even possible, we asked which services they would like to be better funded in their area. Results Interviews were conducted with 14 consultant paediatricians: 9 Community / Neurodisability, 2 General paediatricians, and 3 Paediatric Neurologists. Two themes were identified: the value of an aetiological diagnosis to families and managing risk and probability when investigating EDI. The latter contained 4 subthemes: ‘circumspection’ involved blanket investigations chosen irrespective of phenotype and high regard for guidelines; ‘accepting appropriate risk’ involved participants choosing investigations based on clinical phenotype, recognising some aetiologies would be missed; consultants found they ‘transitioned between practices’ during their career; and ‘improved practice’ was thought possible with better evidence on how to stratify investigations based on phenotype. Services that were most frequently reported to need additional funding were therapy services, early community developmental services, management of behaviour, sleep and mental health, and educational support. Conclusions There are many factors that influence paediatricians’ choice of aetiological investigation in EDI, but clinical factors are the most important. Paediatricians want better evidence to allow them to select the right investigations for each child without a significant risk of missing an important diagnosis.

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Question 2 What is the incidence of biotin deficiency in preschool children with global developmental delay?

Cited by 6 publications

References 10 publications

Aetiological investigations in early developmental impairment: are they worth it?

Aetiological investigations in early developmental impairment: are they worth it?

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

How paediatricians investigate early developmental impairment in the UK: a qualitative descriptive study

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