Living with an inborn error of metabolism detected by newborn screening—Parents’ perspectives on child development and impact on family life

2013 ◽  
Vol 37 (2) ◽  
pp. 189-195 ◽  
Author(s):  
Gwendolyn Gramer ◽  
Gisela Haege ◽  
Esther M. Glahn ◽  
Georg F. Hoffmann ◽  
Martin Lindner ◽  
...  
2013 ◽  
Vol 04 (03) ◽  
pp. 288-291 ◽  
Author(s):  
Anju Aggarwal ◽  
Hema Mittal ◽  
Rahul Patil ◽  
Sanjib Debnath ◽  
Anuradha Rai

ABSTRACT Aim: To study the profile of children with developmental delay and microcephaly. Materials and Methods: Children attending child development clinic with developmental delay were evaluated as per protocol. Z scores of head circumference were calculated using WHO charts. Clinical, radiological and etiological profile of those with microcephaly and those without was compared. Results: Of the 414 children with developmental delay 231 had microcephaly (z score ≤ -3). Mean age of children with microcephaly was 35.1 ± 27.9 months (range 4-184), males (72.7%). Comorbidities were epilepsy (42.9%), visual abnormality (26.4%), hearing abnormality (16.9%). Mean DQ was 29.75 + 17.8 in those with microcephaly was significantly lower compared to the rest (P = 0.002). Secondary microcephaly was associated with cerebral palsy in 69.7%. Other causes were congenital infections (4), inborn error of metabolism (3), post-meningoencephalitis (5), malformations (12), and syndromic (13). Neuroimaging was done in 118 (51.1%) cases of which 104 (88.1%) were abnormal. On comparison children with microcephaly had more epilepsy, lower developmental quotient, vision abnormalities findings as compared to normocephalic children with developmental delay (P &003E; 0.05). Conclusion: Microcephaly was associated with lower, DQ, higher comorbidities in children with developmental delay. Spastic CP is commonly associated with microcephaly.


2010 ◽  
Author(s):  
T. Reid ◽  
F. Earle ◽  
P. Clough
Keyword(s):  

2021 ◽  
Vol 24 (10) ◽  
pp. 309-313
Author(s):  
Aldo Ravaglia ◽  
Giulia Costagliola ◽  
Marco Spada

Classical homocystinuria is an inborn error of methionin metabolism. It is characterized by an accumulation of homocysteine, due to a deficiency of the enzyme involved in its metabolism, namely cystathionine beta synthase. If not treated, the increase in homocysteine leads to a multisystem syndrome that involves connective tissue, nervous and vascular systems with a predisposition to thromboembolism and developmental delay in childhood. An early diagnosis allows the specific therapy to be promptly started and prevents the classical manifestations of the disease. Since 2016 in Italy homocystinuria detection has been included in the expanded newborn screening. However, it is important not to forget this disease, because of its severe consequences of an untreated condition on the quality and expectancy of life.


2019 ◽  
Vol 56 (1) ◽  
pp. e5-e8 ◽  
Author(s):  
Erin E. Bennett ◽  
Kevin Hummel ◽  
Andrew G. Smith ◽  
Nicola Longo

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