An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

2020 ◽  
Author(s):  
Kornelia Tripolszki ◽  
Erina Sasaki ◽  
Ronja Hotakainen ◽  
Abdul Halim Kassim ◽  
Catarina Pereira ◽  
...  
Keyword(s):  
Neurodevelopmental Delay ◽  
Missense Variation ◽  
Early Lethality

scholarly journals Novel Hemizygous Missense Variation in AFF2 Gene Underlies Fragile XE Syndrome

2020 ◽  
Author(s):  
Iftikhar Ahmed ◽  
Gaurav V Harlalka ◽  
Muhammad Ilyas ◽  
Asif Mir
Keyword(s):  
Intellectual Disability ◽  
Autism Spectrum ◽  
Sequencing Analysis ◽  
Speech Delay ◽  
Pakistani Population ◽  
Neurodevelopmental Delay ◽  
Whole Exome ◽  
Novel Variant ◽  
Missense Variation ◽  
Recessive Disorders

Abstract Background: Fragile XE (FRAXE) is an X-linked recessive condition of intellectual disability affecting 1 in 50,000 new born male. FRAXE is characterized by mild ID, cognitive impairment, speech delay and some cases patients display Autism Spectrum disorder (ASD) like phenotypes. . Method: In this study, we investigated a family with two male siblings with neurodevelopmental delay Whole exome sequencing analysis (WES) was employed to identify the pathogenic variant. Co-segregation analysis was performed through Sanger sequencing in affected and normal family members.Results: Two affected Proband of family were diagnosed with intellectual disability. A novel hemizygous variant, c.3348G>T; p.Asp1150Tyr, in AFF2 gene was identified as the pathogenic cause in affected individuals. It is first novel variant report in AFF2 gene within Pakistani population. Conclusion: In this study, novel hemizygous variant, c.3348G>T; p.Asp1150Tyr, in AFF2 gene was identified. The findings broaden the clinical and genetic spectrum of rare X-linked recessive disorders causing ID.

No Neurodevelopmental Delay in Preemies With Grade I–II IVH

2020 ◽  
Vol 44 (5) ◽  
pp. 57-57
Keyword(s):  
Neurodevelopmental Delay

Neurodevelopmental Delay and Intellectual Disability in Pediatric Heart Transplant

2017 ◽  
Vol 13 (1) ◽  
Author(s):  
Orna Alpert ◽  
Martin Vetter ◽  
Shireen Cama ◽  
Hsiang Huang
Keyword(s):  
Intellectual Disability ◽  
Heart Transplant ◽  
Neurodevelopmental Delay ◽  
Pediatric Heart Transplant

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

scholarly journals Neurodevelopmental delay in the severely ill

1999 ◽  
Vol 174 (6) ◽  
pp. 563-563 ◽  
Author(s):  
P. McConville ◽  
N. Walker
Keyword(s):  
Neurodevelopmental Delay

scholarly journals Association between confirmed congenital Zika infection at birth and outcomes up to 3 years of life

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Najeh Hcini ◽  
Yaovi Kugbe ◽  
Zo Hasina Linah Rafalimanana ◽  
Véronique Lambert ◽  
Meredith Mathieu ◽  
...  
Keyword(s):  
Neurological Impairment ◽  
In Utero ◽  
In Utero Exposure ◽  
Zikv Infection ◽  
Neurodevelopmental Delay ◽  
Systematic Testing ◽  
Brain Anomalies ◽  
Increased Risk ◽  
Structural Brain

AbstractLittle is known about the long-term neurological development of children diagnosed with congenital Zika infection at birth. Here, we report the imaging and clinical outcomes up to three years of life of a cohort of 129 children exposed to Zika virus in utero. Eighteen of them (14%) had a laboratory confirmed congenital Zika infection at birth. Infected neonates have a higher risk of adverse neonatal and early infantile outcomes (death, structural brain anomalies or neurologic symptoms) than those who tested negative: 8/18 (44%) vs 4/111 (4%), aRR 10.1 [3.5–29.0]. Neurological impairment, neurosensory alterations or delays in motor acquisition are more common in infants with a congenital Zika infection at birth: 6/15 (40%) vs 5/96 (5%), aRR 6.7 [2.2–20.0]. Finally, infected children also have an increased risk of subspecialty referral for suspected neurodevelopmental delay by three years of life: 7/11 (64%) vs 7/51 (14%), aRR 4.4 [1.9–10.1]. Infected infants without structural brain anomalies also appear to have an increased risk, although to a lesser extent, of neurological abnormalities. It seems paramount to offer systematic testing for congenital ZIKV infection in cases of in utero exposure and adapt counseling based on these results.

scholarly journals The Association between the Five-Minute Apgar Score and Neurodevelopmental Outcomes among Children Aged 8−66 Months in Australia

2021 ◽  
Vol 18 (12) ◽  
pp. 6450
Author(s):  
Tahir Ahmed Hassen ◽  
Catherine Chojenta ◽  
Nicholas Egan ◽  
Deborah Loxton
Keyword(s):  
Apgar Score ◽  
Generalized Estimating Equations ◽  
Entire Range ◽  
Neurodevelopmental Outcomes ◽  
Apgar Scores ◽  
Neurodevelopmental Delay ◽  
Australian State ◽  
Perinatal Data ◽  
Data Collections ◽  
Minute Apgar Score

This study aimed to evaluate the association of the five-minute Apgar score and neurodevelopmental outcomes in children by taking the entire range of Apgar scores into account. Data from the Australian Longitudinal Study of Women’s Health (ALSWH) and Mothers and their Children’s Health (MatCH) study were linked with Australian state-based Perinatal Data Collections (PDCs) for 809 children aged 8−66 months old. Generalized estimating equations were used to model the association between the five-minute Apgar scores and neurodevelopmental outcomes, using STATA software V.15. Of the 809 children, 614 (75.3%) had a five-minute Apgar score of 9, and 130 (16.1%) had an Apgar score of 10. Approximately 1.9% and 6.2% had Apgar scores of 0−6 and 7−8, respectively. Sixty-nine (8.5%) of children had a neurodevelopmental delay. Children with an Apgar score of 0−6 (AOR = 5.7; 95% CI: 1.2, 27.8) and 7−8 (AOR = 4.1; 95% CI: 1.2, 14.1) had greater odds of gross-motor neurodevelopment delay compared to children with an Apgar score of 10. Further, when continuously modelled, the five-minute Apgar score was inversely associated with neurodevelopmental delay (AOR = 0.75; 95% CI: 0.60, 0.93). Five-minute Apgar score was independently and inversely associated with a neurodevelopmental delay, and the risks were higher even within an Apgar score of 7−8. Hence, the Apgar score may need to be taken into account when evaluating neurodevelopmental outcomes in children.

Magnetic Resonance Imaging (MRI) Diagnosis of Fetal Corpus Callosum Abnormalities and Follow-up Analysis

2021 ◽  
pp. 088307382110162
Author(s):  
Xu Li ◽  
Qing Wang
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Resonance Imaging ◽  
Neurodevelopmental Delay ◽  
Mri Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Lost To Follow Up ◽  
Singleton Pregnancies

Objectives: We analyzed the magnetic resonance imaging (MRI) manifestations of fetal corpus callosum abnormalities and discussed their prognosis based on the results of postnatal follow up. Methods: One hundred fifty-five fetuses were diagnosed with corpus callosum abnormalities by MRI at our hospital from 2004 to 2019. Gesell Development Scales were used to evaluate the prognosis of corpus callosum abnormalities after birth. Results: Corpus callosum abnormalities were diagnosed in 149 fetuses from singleton pregnancies, and 6 pairs of twins, 1 in each pair is a corpus callosum abnormality. Twenty-seven cases (27/155) were lost to follow up, whereas 128 cases (128/155) were followed up. Of these, 101 cases were induced for labor, whereas 27 cases were born naturally. Among the 27 cases of corpus callosum abnormality after birth, 22 cases were from singleton pregnancies (22/27). Moreover, 1 twin from each of 5 pairs of twins (5/27) demonstrated corpus callosum abnormalities. The average Gesell Development Scale score was 87.1 in 19 cases of agenesis of the corpus callosum and 74.9 in 3 cases of hypoplasia of the corpus callosum. Among the 5 affected twins, 2 had severe neurodevelopmental delay, 2 had mild neurodevelopmental delay, and 1 was premature and died. Conclusion: The overall prognosis of agenesis of the corpus callosum is good in singleton pregnancies. Hypoplasia of the corpus callosum is often observed with other abnormalities, and the development quotient of hypoplasia of the corpus callosum is lower compared with agenesis of the corpus callosum. Corpus callosum abnormalities may occur in one twin, in whom the risk may be increased.

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