The Genetic Approach to Hypotonia in the Neonate

Zadeh, Neda; Hudgins, Louanne

doi:10.1542/neo.10-12-e600

Cited by 5 publications

(6 citation statements)

References 14 publications

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“…Differentia diagnosis should be performed in neonatal dystonia with other hereditary diseases. Zadeh et al (18) summarized the related genetic diseases and corresponding detection methods. The details were as follows: Prader-Willi syndrome: methylation analysis or SNRPN expression, and then high-resolution chromosome analysis.…”

Section: Child Patientmentioning

confidence: 99%

Neonatal PURA syndrome: a case report and literature review

Liu

et al. 2021

Transl Pediatr

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The study's purpose is to investigate the clinical characteristics and research progress of PURA syndrome. It will also provide new ideas and methods for the diagnosis of neonatal hypotonia etiology. A case of PURA syndrome admitted to Shenzhen Hospital of Peking University was analyzed retrospectively.The keywords "PURA", "PURα", "PURA syndrome", and "5q31" were used to search the Chinese periodical full-text database and Wanfang database. The keywords "PURA", "PURα", "Pur-alpha", "PURA syndrome", and "5q31" were used to search the biomedical literature database (PubMed). The Web of Science database and Proquest database were used to find works of literature from the establishment of the database to November 10, 2019. By analyzing the 72 cases of PURA syndrome reported in ten Chinese and international studies, it was found that 57% (21/37) of the patients had a gestational age greater than 41 weeks. Neonatal patients exhibited hypotonia (82%, 59/72), feeding difficulties (97%, 64/66), apnea or primary hypoventilation (57%, 41/72), intrauterine excessive hiccupping (55%, 6/11), and drowsiness (51%, 24/47). After the neonatal period, the pediatric patients demonstrated moderate to severe mental retardation (100%), epilepsy (54%, 29/54), progressive hip dysplasia (17%, 7/42), scoliosis (48%, 11/23), dysphagia and salivation (69%, 25/36), and constipation (60%, 21/35). The clinical manifestations of the present case were consistent with those in the literature reports. It was the first confirmed case at Shenzhen Hospital in the neonatal period and had a de novo mutation. It was difficult to diagnose PURA syndrome in the neonatal period, which might affect multiple systems. In newborns with obvious hypotonia, the evaluation should be expanded to consider other symptoms. Additionally, targeted gene detection should be completed to achieve early diagnosis and intervention, improve the prognosis, and perform genetic counseling.

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Section: Child Patientmentioning

confidence: 99%

Neonatal PURA syndrome: a case report and literature review

Liu

et al. 2021

Transl Pediatr

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“…A comprehensive genetic analysis provided a molecular diagnosis in 80.8% (21/26) of cases. Whereas CMA had a low yield for detecting hypotonic conditions (8.0%, 2/25), WES had a high yield (87.5%, 14/16), highlighting its essential role in the investigation of suspected hypotonia 1,21,61 . A recent study by AlBanji et al 21 found CMA to be diagnostic in hypotonic conditions in 9% of cases and WES in 59%.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital hypotonia is defined as reduced resistance to passive range of motion that is present at birth 1,2 . The phenotypic spectrum of hypotonia is broad, including a range of severity, gestational age at onset and associated anomalies [2][3][4][5][6] .…”

Section: Introductionmentioning

confidence: 99%

“…Third, due to the characteristic gradual deterioration, repeated targeted ultrasound scans may be necessary 20 . Fourth, diagnosing hypotonia often requires a multidisciplinary approach, including systematic fetal motility assessment, a targeted scan for associated signs and anomalies, fetal magnetic resonance imaging (MRI), lab investigation and genetic tests [1][2][3][4][5]15,[21][22][23] . Hence, the rate of prenatal diagnosis is low.…”

Section: Introductionmentioning

confidence: 99%

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Congenital hypotonia: systematic approach for prenatal detection

Weissbach

Hausman-Kedem

Yanay

et al. 2023

Ultrasound in Obstet & Gyne

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What are the novel findings of this work?This is the first study to address the prenatal manifestation and diagnosis of congenital hypotonia as a single condition. The overall prenatal detection rate of congenital hypotonic conditions in our cohort was 38.5%. Only cases which underwent a targeted scan were detected and, among the cases which underwent this scan, the prenatal detection rate was 62.5%. A proposed diagnostic strategy that involved performing a targeted scan for a single non-specific ultrasound sign and carrying out a comprehensive genetic evaluation for any additional sign offered a theoretical detection rate of 88.5% in our cohort. What are the clinical implications of this work?Suggested is a semiotic strategy to improve the prenatal detection of congenital hypotonia. This is based on a list of sonographic signs that should be sought, some described herein for the first time.

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“…İki aylıkken hipotoni ve solunum sıkıntısı nedeniyle hastanemize başvuran bir hastada yüksek CK düzeyi, EKG'de kısa P-R mesafesi, akciğer grafisinde kardiyomegali saptanması sonrasında yurt dışına gönderilen asit maltaz düzeyinin düşük bulunması nedeniyle Pompe tanısı konularak enzim tedavisine başlanmış ancak hasta kaybedilmiştir (15). Periferik hipotonisinin ön planda olması dikkat çekicidir.…”

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Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

Özaydın¹,

Ürey²,

Gündüz³

et al. 2013

Turkish J Pediatr Dis

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ÖzETAmaç: Bu çalışmanın amacı, hipotonik bebeklerin tanı profilini belirlemek ve tanı sürecinde bir algoritmanın gerekliliğini analiz etmektir. Gereç ve Yöntemler:Çalışmaya hipotoni şikayetiyle kabul edilen 53 hasta dahil edildi. Hipotonik bebekler klinik bulgularına göre iki gruba ayrıldı: Santral ve periferik. Klinik verilerin analizi ve araştırmaların sonuçlarıyla altı basamaklı bir algoritma oluşturuldu. bulgular: Otuz sekiz hastada santral hipotoni ve 15 hastada periferik hipotoni mevcuttu.Santral hipotonili hastalara dikkatli bir anamnez ve fizik muayeneden sonra basit karyotip analizi ve kranial görüntüleme ile %57.8 oranında tanı konulabildi. Nörometabolik hastalıklara daha ileri tetkiklerle tanı konuldu. Birinci basamak (klinik veriler ve fizik muayene) ve 2. basamak (kranial BT, MRI) 21 hastanın tanısını çözdü. Üçüncü basamakta (dismorfik bulgularla literatür taraması) ve dördüncü basamak (karyotip analizi) sonunda 6 hastanın tanı alması sağlandı. Beşinci basamakta biyokimyasal testlerle hastaların % 15'ine tanı konuldu. Altıncı basamaktaki testler (CK, EMG, SMA ve KMD için DNA analizi, kas biopsisi) 7 hasta için tanı koydurucuydu. Kalan dokuz hastaya tanı konulamadı.sonuç: Hipotonik infantların sistemik değerlendirilmesinde gereksiz tanı koydurucu işlemlerin yapılmasını önlemek amacıyla bir algoritmanın kullanılması yararlı olacaktır.Anahtar sözcükler: Algoritma, Ayırıcı tanı, Hipotoni, İnfant AbsTRACTObjective: The aim of this study was to determine the diagnostic profile of infants with hypotonia and to analyze the necessity of an algorithm in the diagnostic process. Material and Methods:Fifty-three patients admitted with the complaint of hypotonia were included in the study. The hypotonic infants were divided into two groups: central and peripheral hypotonia. An algorithm containing six steps was constructed with the analysis of clinical data and results of investigations.Results: Thirty-eight infants had central hypotonia and 15 had peripheral hypotonia. Through a careful medical history and physical examination, a diagnosis was made in 57.8% of the patients with hypotonia by a simple karyotype analysis and cranial MRI. The neurometabolic diseases were diagnosed with further investigations.Step 1 (clinical data and physical examination) and Step 2 (cranial CT, MRI) provided the diagnosis of 21 patients.Step 3 (literature search with dysmorphic findings) and Step 4 (karyotype analysis) contributed to the diagnosis of 6 patients. The diagnosis required biochemical tests in Step 5 in 15 percent of the patients. TheStep 6 tests (CK, EMG, DNA analysis for SMA and CMD, muscle biopsy) were diagnostic for 7 patients. The remaining nine patients could not be diagnosed. Conclusion:An algorithm would be useful for the systematic evaluation of hypotonic infants to prevent unnecessary diagnostic procedures.

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The Genetic Approach to Hypotonia in the Neonate

Cited by 5 publications

References 14 publications

Neonatal PURA syndrome: a case report and literature review

Neonatal PURA syndrome: a case report and literature review

Congenital hypotonia: systematic approach for prenatal detection

Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

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