scholarly journals Developmental Delay in Children with X-Linked Ichthyosis: A Case Series

2021 ◽  
Vol 29 (4) ◽  
pp. 186-189
Author(s):  
Su Jeong Park ◽  
Kyung Hee Park ◽  
Mi Hye Bae ◽  
Young Mi Kim
Keyword(s):  
Developmental Delay ◽  
Case Series

scholarly journals The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patients

2021 ◽  
Author(s):  
Jessica Kang ◽  
Chien Nan Lee ◽  
Yi-Ning Su ◽  
Ming-Wei Lin ◽  
Yi-Yun Tai ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Developmental Delay ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Case Series ◽  
Copy Number Variant ◽  
University Hospital ◽  
Limited Information ◽  
Ultrasound Findings

Objective: The prenatal genetic counseling of fetus diagnosed with the 15q11.2 copy number variant (CNV) involving the BP1-BP2 region has been difficult due to limited information and controversial opinion on prognosis. Design: Case series. Setting: This study uses data from National Taiwan University Hospital. Sample: Data of 36 pregnant women who underwent prenatal microarray analysis from 2012 to 2017 and were assessed at National Taiwan University Hospital. Methods: Data were collected by reviewing patients’ medical record. Comparison of patient characteristics, prenatal ultrasound findings and postnatal outcomes between different cases involving the 15q11.2 BP1-BP2 region were presented. Main outcome measured: Postnatal prognosis. Results: Out of the 36 patients diagnosed with CNVs involving the BP1-BP2 region, 5 were diagnosed with microduplication and 31 with microdeletion. Abnormal ultrasound findings were recorded in 12 cases prenatally. De novo microduplications were observed in 25% of the cases and microdeletions were found in 14%. Amongst the cases, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). Conclusion: The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its connection with developmental delay and autism. In our study, no obvious developmental delay or neurological disorders were detected postnatally in the 1 case of 15q11.2 microduplication and 25 cases of microdeletion.

The Management of Birth-Related Posterior Fossa Hematomas in Neonates

Neurosurgery ◽  
2013 ◽  
Vol 72 (5) ◽  
pp. 755-762 ◽  
Author(s):  
Thomas Blauwblomme ◽  
Matthew Garnett ◽  
Estelle Vergnaud ◽  
Nathalie Boddaert ◽  
Marie Bourgeois ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Posterior Fossa ◽  
Ventriculoperitoneal Shunt ◽  
Case Series ◽  
External Ventricular Drainage ◽  
Cranial Ultrasound ◽  
Delayed Presentation ◽  
Mild Developmental Delay ◽  
Brainstem Dysfunction

Abstract BACKGROUND: Symptomatic posterior fossa hematoma in the term newborn is rare. OBJECTIVE: To report on the management and outcome of posterior fossa subdural hematoma (PFSDH) in neonates. METHODS: A retrospective analysis of the department database and clinical notes of neonates admitted since 1985 with a PFSDH was performed together with a literature review of similar case series. RESULTS: Sixteen patients were included. The median gestational age was 40 weeks with a high proportion of primiparous mothers (n = 9) and forceps delivery (n = 9). Nine neonates had symptoms of brainstem dysfunction within the first 24 hours of life, whereas the other 7 had a delayed presentation (median 4 days) with signs of raised intracranial pressure due to hydrocephalus. Each patient had a cranial ultrasound followed by computed tomography scan that showed the PFSDH. Eleven neonates required surgical evacuation of the PFSDH, whereas hydrocephalus was managed by transient external ventricular drainage in 2 further patients. Eventually, 2 neonates required a permanent ventriculoperitoneal shunt. Five neonates had no operative intervention. With a mean follow-up of 7.8 years, 2 patients had mild developmental delay and 1 had severe developmental delay. The 13 other patients had a normal development. CONCLUSION: In neonates with a PFSDH, surgery can be safely performed in those who have clinical and radiological signs of brainstem compression or hydrocephalus. A small number of neonates require a ventriculoperitoneal shunt in the long term. Initial aggressive resuscitation should be performed even in cases of initial severe brainstem dysfunction because of the good long-term neurological outcome.

scholarly journals 12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Adrian Mc Cormack ◽  
Cynthia Sharpe ◽  
Nerine Gregersen ◽  
Warwick Smith ◽  
Ian Hayes ◽  
...  
Keyword(s):  
Short Stature ◽  
Developmental Delay ◽  
Growth Retardation ◽  
Case Series ◽  
Postnatal Growth ◽  
Additional Case ◽  
Postnatal Growth Retardation ◽  
Growth Profile ◽  
Severe Short Stature

To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of theHMGA2gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of theHMGA2gene and shows a much better growth profile, but with absolute macrocephaly. This patient’s deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

scholarly journals Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

2020 ◽  
pp. 1-8
Author(s):  
Lindsey Schmidt ◽  
Karen E. Wain ◽  
Catherine Hajek ◽  
Juvianee I. Estrada-Veras ◽  
Maria J. Guillen Sacoto ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Case Series ◽  
Missense Variant ◽  
Autism Spectrum ◽  
Cortical Dysplasia ◽  
Global Developmental Delay ◽  
Tubulin Genes ◽  
Pathogenic Variants ◽  
Brain Malformations ◽  
History Of

Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with a spectrum of brain malformations. One of these conditions is <i>TUBB2A</i>-related tubulinopathy. Currently, there are 9 reported individuals with pathogenic variants within the <i>TUBB2A</i> gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified by exome and genome sequencing to have a novel, pathogenic, missense variant in <i>TUBB2A</i> (p.Gly98Arg). They presented similarly with intellectual disability, hypotonia, and global developmental delay and varied with respect to the type of cortical brain malformation, seizure history, diagnosis of autism spectrum disorder, and other features. This case series expands the natural history of <i>TUBB2A</i>-related tubulinopathy while describing the presentation of a novel, pathogenic, missense variant in 3 patients.

scholarly journals The Otteroo: A Case Series Exploring Its Potential to Support Physical Therapy Intervention in Infants with or at Risk for Developmental Delay

Healthcare ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 109
Author(s):  
Isabel Reed ◽  
Stacy Menz ◽  
Beth A. Smith
Keyword(s):  
At Risk ◽  
Physical Therapy ◽  
Developmental Delay ◽  
Case Series ◽  
Exercise Program ◽  
Home Exercise ◽  
Future Research ◽  
Survey Responses ◽  
Therapy Intervention ◽  
Physical Therapy Intervention

The objective of this case series was to examine the potential of the Otteroo as a tool to support physical therapy intervention in infants with or at risk for developmental disability. The Otteroo is a float with potential for use in aquatic therapy sessions or as part of a home exercise program. By tracking the amount of use and caregiver perception of the child’s response, we aimed to generate an understanding of the Otteroo’s potential as a family-based adjunct to physical therapy. Four children at risk of developmental delay participated in this study. The Otteroo was provided for four weeks, with recommendations for use. We used an activity log to track usage and collected survey data of caregiver perception of the child’s response. Activity logs showed that use ranged from 3–7 interactions and a total of 40–99.5 min (x¯ = 54.88, SD = 29.75). The survey responses varied as to whether caregivers perceived their children enjoyed the experience. Future research should focus on finding effective methods of encouraging Otteroo use if efficacy of an intervention is to be tested. This initial work provides a foundation for future efficacy research with the Otteroo in children with or at risk for developmental delay.

scholarly journals Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

2017 ◽  
Vol 5 (5) ◽  
pp. 587-591
Author(s):  
Anila Babameto-Laku ◽  
Dorina Roko ◽  
Gentian Vyshka
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Array Cgh ◽  
International System ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Comparative Genomic ◽  
Facial Dysmorphism ◽  
Chromosomal Anomalies

AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application.MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies. The age range was from newborn to five years old. The cytogenetic analysis determined by a standard method of G-banding according to the International System for Human Cytogenetic Nomenclature (ISCN 2005) was performed for all our patients, while array CGH was performed on genomic DNA isolated from the blood of 7 cases.RESULTS: Among the seven patients analysed with array CGH, three patients resulted in duplication and one deletion, one patient with a microdeletion and three patients with duplication. Array CGH facilitated the recognition of submicroscopic deletions and duplications as risk factors for genetic diagnosis in all our patients.CONCLUSIONS: Our case series with congenital chromosomal anomalies confirms the high diagnostic value of the method, as suggested by previous studies. The technique must be available also in less developed countries, to significantly improve the genetic diagnosis of paediatric patients with developmental delay or intellectual disability, congenital anomalies and dysmorphic features. The identification of chromosomal abnormalities in these patients and the genetic counselling will provide family members with an explanation for their child’s developmental disability or birth defect, allowing better information about recurrence risks, and permit the anticipation of certain medical problems that require intervention.

scholarly journals Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series

2020 ◽  
pp. 105566562095409
Author(s):  
Marie Anne Roelandt ◽  
Koenraad Devriendt ◽  
Maria Cadenas de Llano-Pérula ◽  
Margot Raes ◽  
Guy Willems ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Tooth Development ◽  
Genetic Diagnosis ◽  
Case Series ◽  
Hybridization Technique ◽  
Comparative Genome Hybridization ◽  
Nasal Bridge ◽  
Oral Clefts ◽  
Dental Practitioners ◽  
Dental Casts

This case series is a follow-up report focusing on dental and facial characteristics in patients with a rare microdeletion in chromosome 14q22.1-q22.2. Usually, these patients have severe ocular, brain, and digital abnormalities. However, this case series shows that clinical presentation can be mild. Four relatives spanning 3 generations were diagnosed with a familial autosomal dominant 2.79 Mb microdeletion in chromosome 14q22.1-q22.2. Genetic screening was done by the Bacterial Artificial Chromosome array-comparative genome hybridization and was confirmed by the fluorescence in situ hybridization technique. Dental and craniofacial data were collected from medical files, clinical examinations, clinical photos, panoramic and cephalometric radiographs, and dental casts. Written informed consent for scientific use was obtained for all family members. No larger syndrome could be identified. All cases had similar facial red flag characteristics, consisting of a long face with retrognathia and open mouth relation, associated oral clefts in varying degrees, depressed nasal bridge, delayed tooth development, hypertelorism, and low-set angular ears. The dental casts showed a distal molar occlusion and a lack of space in the dental arches. Developmental delay was noted together with limb defects such as poly- and syndactyly. Microphthalmia and hearing loss were present in the most severe cases. This rare congenital disorder, associated with facial dysmorphia, oral clefts, and tooth agenesis, can remain undiagnosed until adulthood. A family history of short stature, developmental delay, poly- or syndactyly, and micropthalmia are suggestive features. Similar reports help to raise awareness among dental practitioners, leading to an early genetic diagnosis.

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