Language assessment of children with severe liver disease in a public service in Brazil

de-Paula, Erica Macêdo; Porta, Gilda; Tannuri, Ana Cristina Aoun; Tannuri, Uenis; Befi-Lopes, Débora Maria

doi:10.6061/clinics/2017(06)04

Cited by 5 publications

(5 citation statements)

References 21 publications

(32 reference statements)

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“…Although there is a known association between mutations in the JAG1 gene and craniofacial deformities, the precise implications of these abnormalities on oral-motor function and speech capabilities have yet to be comprehensively elucidated. Several explanations are plausible for the observed language impairments: Firstly, chronic liver disease might contribute to delayed language skill development 28 . Secondly, the significant deletion might be associated with developmental delays 29 .…”

Section: Discussionmentioning

confidence: 99%

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

Feng,

Ping,

Gao

et al. 2024

Sci Rep

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Alagille Syndrome (ALGS) is a complex genetic disorder characterized by cholestasis, congenital cardiac anomalies, and butterfly vertebrae. The variable phenotypic expression of ALGS can lead to challenges in accurately diagnosing affected infants, potentially resulting in misdiagnoses or underdiagnoses. This study highlights novel JAG1 gene mutations in two cases of ALGS. The first case with a novel p.Pro325Leufs*87 variant was diagnosed at 2 months of age and exhibited a favorable prognosis and an unexpected manifestation of congenital hypothyroidism. Before the age of 2, the second patient was incorrectly diagnosed with liver structural abnormalities, necessitating extensive treatment. In addition, he exhibited delays in language acquisition that may have been a result of SNAP25 haploinsufficiency. The identification of ALGS remains challenging, highlighting the importance of early detection and genetic testing for effective patient management. The variant p.Pro325Leufs*87 is distinct from reported variants linked to congenital hypothyroidism in ALGS patients, thereby further confirming the clinical and genetic complexity of ALGS. This emphasizes the critical need for individualized and innovative approaches to diagnosis and medical interventions, uniquely intended to address the complexity of this syndrome.

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Section: Discussionmentioning

confidence: 99%

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

Feng,

Ping,

Gao

et al. 2024

Sci Rep

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“…Children performed worse in receptive language, the maturational course of language development occurs in an orderly manner, where the regions related to receptive language are myelinated earlier than those responsible for functions of expressive language (39) . This was perhaps a justification, because the study by de-Paula et al (4) , whose population had an average age of 17 months, influenced the result of the meta-analysis.…”

Section: Discussionmentioning

confidence: 99%

“…Two studies evaluated expressive and receptive language in children aged 2 to 12 years. (FIGURE 3.F,G) (4,29) . The metaanalysis demonstrated that there was no statistically significant difference between groups in terms of expressive language -0.78 (95%CI: -1.99 to 0.42; N: 921).…”

Section: Expressive and Receptive Languagementioning

confidence: 99%

“…With the increase in life expectancy after treatment of liver diseases, it is observed that the focus of professionals who deal with these children has expanded from mere survival to a careful look at long-term functionality and quality of life (4) . Neuropsychomotor aspects, such as cognitive function, and motor and social development are essential skills for the adequate school development and future occupational activity of these children and adolescents and also for family balance (5) .…”

Section: Introductionmentioning

confidence: 99%

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Neuropsychomotor Development in Children and Adolescents With Liver Diseases: Systematic Review With Meta-Analysis

Santos

Saquetto

Neto

et al. 2021

Arq. Gastroenterol.

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BACKGROUND: The nature of liver disease, the evolutionary course and duration of liver diseases, as well as the degree of severity and disability can trigger multiple outcomes with repercussions on neuromotor acquisition and development. OBJECTIVE: To systematically review and conduct a meta-analysis to evaluate the effects of liver disease on the neuropsychomotor development of children and adolescents with their native livers and those who underwent liver transplantation. METHODS: Observational studies published since the early 1980s until June 2019 were sought in the PubMed and Scopus databases. An α value of 0.05 was considered significant. The statistical heterogeneity of the treatment effect between the studies was assessed by the Cochran’s Q test and the I2 inconsistency test, in which values above 25 and 50% were considered indicative of moderate and high heterogeneity, respectively. Analyses were performed with Review Manager 5.3. RESULTS: Twenty-five studies met the eligibility criteria, including 909 children and adolescents with liver disease. Meta-analyses showed deficits in total IQ -0.41 (95%CI: -0.51 to -0.32; N: 9,973), verbal IQ -0.38 (95%CI: -0.57 to -0.18; N: 10,284) and receptive language -0.85 (95%CI: -1.16 to -0.53; N: 921) in liver transplantation, and those with native livers who had symptoms early had total and verbal IQ scores (85±8.8; 86.3±10.6 respectively) lower than the scores of those with late manifestations (99.5±13.8; 96.2±9.2). Gross motor skill was reduced -46.29 (95%CI: -81.55 to -11.03; N: 3,746). CONCLUSION: Acute or chronic liver disease can cause declines in cognitive, motor and language functions. Although the scores improve after liver transplantation, children remain below average when compared to healthy children.

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“…16 Furthermore, in children with chronic liver disease, de-Paula et al noted delays in language development in children awaiting transplantation compared to those who had undergone transplantation. 36…”

Section: Discussionmentioning

confidence: 99%

Language impairment in adults with end-stage liver disease: application of natural language processing towards patient-generated health records

et al. 2019

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End-stage liver disease (ESLD) is associated with cognitive impairment ranging from subtle alterations in attention to overt hepatic encephalopathy that resolves after transplant. Natural language processing (NLP) may provide a useful method to assess cognitive status in this population. We identified 81 liver transplant recipients with ESLD (4/2013–2/2018) who sent at least one patient-to-provider electronic message pre-transplant and post-transplant, and matched them 1:1 to “healthy” controls—who had similar disease, but had not been evaluated for liver transplant—by age, gender, race/ethnicity, and liver disease. Messages written by patients pre-transplant and post-transplant and controls was compared across 19 NLP measures using paired Wilcoxon signed-rank tests. While there was no difference overall in word length, patients with Model for End-Stage Liver Disease Score (MELD) ≥ 30 (n = 31) had decreased word length in pre-transplant messages (3.95 [interquartile range (IQR) 3.79, 4.14]) compared to post-transplant (4.13 [3.96, 4.28], p = 0.01) and controls (4.2 [4.0, 4.4], p = 0.01); there was no difference between post-transplant and controls (p = 0.4). Patients with MELD ≥ 30 had fewer 6+ letter words in pre-transplant messages (19.5% [16.4, 25.9] compared to post-transplant (23.4% [20.0, 26.7] p = 0.02) and controls (25.0% [19.2, 29.4]; p = 0.01). Overall, patients had increased sentence length pre-transplant (12.0 [9.8, 13.7]) compared to post-transplant (11.0 [9.2, 13.3]; p = 0.046); the same was seen for MELD ≥ 30 (12.3 [9.8, 13.7] pre-transplant vs. 10.8 [9.6, 13.0] post-transplant; p = 0.050). Application of NLP to patient-generated messages identified language differences—longer sentences with shorter words—that resolved after transplant. NLP may provide opportunities to detect cognitive impairment in ESLD.

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Language assessment of children with severe liver disease in a public service in Brazil

Cited by 5 publications

References 21 publications

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

Neuropsychomotor Development in Children and Adolescents With Liver Diseases: Systematic Review With Meta-Analysis

Language impairment in adults with end-stage liver disease: application of natural language processing towards patient-generated health records

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