Homozygous variegate porphyria presenting with developmental and language delay in childhood

2013 ◽  
Vol 38 (7) ◽  
pp. 737-740 ◽  
Author(s):  
V. A. E. Pinder ◽  
S. T. Holden ◽  
C. Deshpande ◽  
A. Siddiqui ◽  
J. E. Mellerio ◽  
...  
Keyword(s):  
Language Delay ◽  
Variegate Porphyria

Pathways to language: a naturalistic study of children with Williams syndrome and children with Down syndrome

2012 ◽  
Vol 40 (1) ◽  
pp. 106-138 ◽  
Author(s):  
YONATA LEVY ◽  
ARIELA EILAM
Keyword(s):  
Down Syndrome ◽  
Data Collection ◽  
Williams Syndrome ◽  
Language Delay ◽  
Typically Developing ◽  
Naturalistic Study ◽  
Children With Down Syndrome ◽  
Network Properties ◽  
Development Of Language ◽  
Language Onset

ABSTRACTThis is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1·0 to 4·4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS, and typically developing (TD) controls of similar MLU. Development within one calendar year showed remarkable synchrony among the variables. However, age of language onset and pace of acquisition departed significantly from normal timing. It is argued that in view of the centrality of genetic timing and the network properties of cognition, normal schedules are crucial determinants of intact development. Consequently, with respect to neurodevelopmental syndromes, the so-called ‘language delay’ is indicative of deviance that is likely to impact development in critical ways.

scholarly journals Prevalence of Language Delay among Healthy Preterm Children, Language Outcomes and Predictive Factors

Children ◽  
2021 ◽  
Vol 8 (4) ◽  
pp. 282
Author(s):  
Miguel Pérez-Pereira
Keyword(s):  
Gestational Age ◽  
Language Impairment ◽  
Maternal Education ◽  
Longitudinal Design ◽  
Age Groups ◽  
Full Term ◽  
Language Delay ◽  
Preterm Children ◽  
General Terms ◽  
Extremely Preterm

Language delay (LD) and its relationship with later language impairment in preterm children is a topic of major concern. Previous studies comparing LD in preterm (PT) and full-term (FT) children were mainly carried out with samples of extremely preterm and very preterm children (sometimes with additional medical problems). Very few of them were longitudinal studies, which is essential to understand developmental relationships between LD and later language impairment. In this study, we compare the prevalence of LD in low-risk preterm children to that of FT children in a longitudinal design ranging from 10 to 60 months of age. We also analyze which variables are related to a higher risk of LD at 22, 30 and 60 months of age. Different language tests were administered to three groups of preterm children of different gestational ages and to one group of full-term children from the ages of 10 to 60 months. ANOVA comparisons between groups and logistic regression analyses to identify possible predictors of language delay at 22, 30 and 60 months of age were performed. The results found indicate that there were practically no differences between gestational age groups. Healthy PT children, therefore, do not have, in general terms, a higher risk of language delay than FT children. Previous language delay and cognitive delay are the strongest and longest-lasting predictors of later language impairment. Other factors, such as a scarce use of gestures at 10 months or male gender, affect early LD at 22 months of age, although their effect disappears as children grow older. Low maternal education appears to have a late effect. Gestational age does not have any significant effect on the appearance of LD.

scholarly journals The effect of age at time of cochlear implantation on the pragmatic development of the prelingual hearing impaired children

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Mona Sameeh Khodeir ◽  
Dina Fouad El Sayed Moussa ◽  
Rasha Mohammed Shoeib
Keyword(s):  
Language Development ◽  
Cochlear Implantation ◽  
Study Groups ◽  
Hearing Impaired ◽  
Language Delay ◽  
Pragmatic Language ◽  
Language Abilities ◽  
Pragmatic Development ◽  
Impaired Children ◽  
Hearing Impaired Children

Abstract Background Pragmatics is the social use of language that draws on understanding human interactions in specific contexts and requires engagement with a communicative partner or partners. The hearing-impaired children are known to have a pragmatic language delay as hearing impairment deprived of exposure to natural communication interactions, in addition to the language delay they have. Since the age of implantation has emerged as an important predictor of language, hearing, and speech in children who use cochlear implants (CI), question aroused about the benefits of early cochlear implantation on pragmatic language development in those children. Thus, this study aims to compare the pragmatic language development of the prelingual hearing impaired children who cochlear implanted before the age of 3 years and those who cochlear implanted after the age of 3 years. Results The two study groups showed no significant differences regard their scores in the Egyptian Arabic Pragmatic Language Test (EAPLT). The two studied groups had pragmatic language scores below their 5th percentile. Among the studied groups, the scores of the EAPLT were positively correlated to the age of the children, the children’s language abilities, and the duration of the received language rehabilitation, with no significant correlation to the age of implantation. Conclusions The age of implantation has no impact on pragmatic language development in children with CI. The prelingual children with CI are susceptible to delays in the pragmatic language development that is primarily related to the age of those children and their language abilities, besides their experience in social interactions. These results should be considered in their rehabilitative plan and advocate the importance of early incorporation of pragmatic behaviors into their intervention programs.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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