Seminars in Fetal and Neonatal Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 101551 - 101551
Published: Nov. 1, 2024
Language: Английский
Neuropsychology Review, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 20, 2025
Abstract CTNNB1 syndrome is a rare neurodevelopmental disorder caused by likely pathogenic or variant in the gene. A systematic review was conducted to examine previous research that provided patients, specifically those described intellectual quotient, motor development, language impairments, behavioural problems and features of autism. Databases examined were PubMed Scopus. The inclusion criteria (a) reported human patients diagnosed with genetic test; (b) related cognition, intelligence impairment, autism; (c) did not have another diagnosis (d) written Spanish English. total 42 studies included. Overall, symptomatology very heterogeneous varying degrees impairment among patients. However, individuals reached most significant developmental milestones later than expected different impairment. use standardised methodology assess cognitive domains scarce studies, vast majority include specific assessment protocol based on individuals. In addition, only two adult depth, which implies there are many unknowns about progression life. Therefore, future should focus increasing sample assessed count order characterise phenotype syndrome.
Language: Английский
Citations
1
Developmental Medicine & Child Neurology, Journal Year: 2024, Volume and Issue: 67(2), P. 177 - 185
Published: Aug. 29, 2024
Abstract The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between impact on development CP, recent studies indicate an 11% to 40% incidence monogenic conditions patients given a diagnosis CP. A genetic supports the delivery personalized medicine. In this review, we describe how Wnt pathway exemplifies our understanding pathophysiology related gene variant ( CTNNB1 ) found some children diagnosed with We cover undertaken establish baseline prevalence populations attending CP clinics. list factors indicating increased likelihood genomic diagnosis; highlight need for comprehensive, accurate, genotype–phenotype reference data set aid interpretation cohorts. also consider wider societal implications management including significance diagnostic label, benefits pitfalls diagnosis, logistics, cost.
Language: Английский
Citations
7
Mammalian Genome, Journal Year: 2025, Volume and Issue: unknown
Published: Jan. 20, 2025
Language: Английский
Citations
0
Journal of Intellectual Disability Research, Journal Year: 2025, Volume and Issue: unknown
Published: March 27, 2025
ABSTRACT Background The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra‐rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many patients had previously received those diagnosis. Therefore, the aim this study to establish differences on cognitive and adaptive functioning compared CP. Methods A total 55 paediatric patients—25 syndrome, 17 13 PC—were assessed extensive protocol for neuropsychological domains through in‐person assessments online meetings parent‐reported questionnaire. Results No were found among verbal tasks between groups, even though obtained significantly lower scores visuospatial logical tasks. Regarding functioning, outperformed group most domains, whereas CP did not differ much, obtaining only gross motor ability. Externalizing problems control groups. Also, correlations indicated improvement over years patients. Conclusions This compare diseases detect significant difference. Although intellectual disability one main manifestations performed better than thinking exercises, while performances from
Language: Английский
Citations
0
JAAPA, Journal Year: 2025, Volume and Issue: unknown
Published: Feb. 4, 2025
ABSTRACT Cerebral palsy (CP) is an encompassing term for a group of permanent neurologic disorders movement and posture commonly seen in early childhood caused by abnormal brain development life. The cause CP unclear the majority patients affected can be multifactorial, occurring various time frames such as prenatal, intrapartum, postpartum. Because clinical diagnosis, clinicians must have strong understanding presentation to ensure diagnosis improved outcomes patients. This article reviews describes advances management; it also provides overview new treatments that are under investigation.
Language: Английский
Citations
0
Developmental Medicine & Child Neurology, Journal Year: 2025, Volume and Issue: unknown
Published: April 5, 2025
Abstract Aim To optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables. Method In this mixed methods study, we surveyed current approaches to Australian clinicians involved the diagnosis of CP. Using an international expert panel explored 78 variables, determine which variables were thought be supportive monogenic We tested a retrospective cohort 100 CP, whom 21 had cause Results Forty‐five replied survey practice, 91% agreed that has role although 47% there was inadequate guidance on patients test. The reached 75% agreement for 30 out 14 against Retrospective CP revealed dysmorphic features (odds ratio [OR] = 7.50; 95% confidence interval [CI] 1.88–29.85) intellectual disability (OR 4.86; CI 1.29–18.30) more common those MRI being compatible picture feature least 0.14; 0.05–0.41). Interpretation Genetic determining aetiology; however, is no consensus who should tested. used methodology found features, disability, ‘MRI not picture’ are most
Language: Английский
Citations
0
Seminars in Fetal and Neonatal Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 101551 - 101551
Published: Nov. 1, 2024
Language: Английский
Citations
0