Paroxysmal tonic upgaze (PTU) associated with CACNA1A mutation and gross motor delay

Author(s):  
Melinda Y. Chang ◽  
Tiffany Yuen ◽  
Aarti Vyas ◽  
Mark S. Borchert
2019 ◽  
Vol 4 (6) ◽  
pp. 1399-1405 ◽  
Author(s):  
Jennifer Christy

Purpose The purpose of this article was to provide a perspective on vestibular rehabilitation for children. Conclusion The developing child with vestibular dysfunction may present with a progressive gross motor delay, sensory disorganization for postural control, gaze instability, and poor perception of motion and verticality. It is important that vestibular-related impairments be identified early in infancy or childhood so that evidence-based interventions can be initiated. A focused and custom vestibular rehabilitation program can improve vestibular-related impairments, enabling participation. Depending on the child's age, diagnosis, severity, and quality of impairments, vestibular rehabilitation programs may consist of gaze stabilization exercises, static and dynamic balance exercises, gross motor practice, and/or habituation exercises. Exercises must be modified for children, done daily at home, and incorporated into the daily life situation.


2019 ◽  
Vol 59 (1) ◽  
pp. 27-32
Author(s):  
Joanna Erin Hanrahan ◽  
Irawan Mangunatmadja

Background. Gross motor is one of the skill domain with the highest parental concern as mastering it determines the autonomy of a child. Several internal risk factors including perinatal asphyxia, prematurity, low birth weight, wide fontanelle, and microcephaly have been studied in predicting gross motor delay with varied results. This study is made to arrange a strategic intervention on the prevention of delayed development. Objective. To evaluate perinatal asphyxia, gestation age <37 weeks, birth weight <2500 grams, microcephaly, and wide fontanelle as predictors of gross motor delay in children aged 6-24 months. Methods. A case control study design was used. Data collection was conducted by direct assessment of gross motor skill and parents’ interview in Cipto Mangunkusumo National Hospital and Anakku Clinic, South Jakarta. Children with gross motor delay were included in the case group and children with normal gross motor were included in the control group. Data was analyzed using bivariate and multivariate analysis with a statistical significance value of P<0.05 and 95% confidence intervals. Results. One hundred and twenty-six subjects were studied, with 63 children in the case group and 63 children in the control group. Baseline characteristics of subjects were similar between the two groups. Microcephaly and gestation age <37 weeks were predictors of gross motor delay [(aOR 4.613 (95% CI 95 2.023 to 10.521, P<0.001) and (aOR 3.668 (95% CI 1.153 to 11.673, P=0.028), respectively]. Conclusion. Microcephaly and gestation age <37 weeks are significant predictors of gross motor delay in children aged 6-24 months.


2019 ◽  
Vol 31 (2) ◽  
pp. 217-224 ◽  
Author(s):  
Rachel Ferrante ◽  
Sarah Hendershot ◽  
Kathy Baranet ◽  
Gardenia Barbosa ◽  
Helen Carey ◽  
...  

2018 ◽  
Vol 27 (1) ◽  
pp. 137-146 ◽  
Author(s):  
Kristen L. Janky ◽  
Megan L. A. Thomas ◽  
Robin R. High ◽  
Kendra K. Schmid ◽  
Oluwaseye Ayoola Ogun

PurposeThe aim of this study was to determine if there are factors that can predict whether a child with hearing loss will also have vestibular loss.MethodA retrospective chart review was completed on 186 children with hearing loss seen at Boys Town National Research Hospital for vestibular testing from 1999 to 2015 through neurosensory genetics clinic or cochlear implant candidacy. Each child's medical chart was reviewed to obtain the following data: vestibular loss severity (classified as normal, bilateral, or mild to moderate), degree of hearing loss (bilateral pure-tone average [PTA]), imaging abnormalities (classified as “normal” or “abnormal”), parental concerns for gross motor delay (classified as “yes, there is concern” or “no, there is not a concern”), parent report of age when their child sat (months) and walked independently (months), comorbidities (classified as “yes” if there were 1 or more comorbidities or “no” if there were no comorbidities), and score on the Developmental Profile-3.ResultsChildren were grouped according to vestibular loss severity; 115 children had normal vestibular function, 31 had bilateral vestibular loss, and 40 had mild-to-moderate vestibular loss. As severity of vestibular loss increased, children (a) sat and walked later, (b) scored more poorly on the Developmental Profile-3 physical subscale, (c) had more severe hearing loss, (d) had parents who more frequently reported concern for gross motor delay, and (e) were more likely to have other comorbidities. Of these factors, age-to-sit, age-to-walk, PTA, and parental concerns for gross motor developmental delay had the greatest ability to differentiate children with vestibular loss from children with normal vestibular function.For age-to-sit, using a cutoff value of 7.25 months yielded a sensitivity of 62% and a specificity of 81%. For age-to-walk, a cutoff value of 14.5 months yielded a sensitivity of 78% and a specificity of 77%. For PTA for the neurosensory genetics group, a cutoff value of 40 dB yielded a sensitivity of 80% and a specificity of 55%; however, a cutoff value of 66 dB yielded a sensitivity of 33% and an improved specificity of 91%.ConclusionsA referral for vestibular evaluation should be considered for children whose hearing loss is greater than 66 dB and particularly those who sit later than 7.25 months or walk later than 14.5 months or whose parents report concerns for gross motor development. Collectively, these factors appear to be more sensitive for identifying children with bilateral vestibular loss compared with children with mild-to-moderate vestibular loss. Because of the benefit of physical therapy, children identified with vestibular loss should then be referred to physical therapy for further evaluation and treatment.


2018 ◽  
Vol 178 (6) ◽  
pp. 1443-1444 ◽  
Author(s):  
C. Mahon ◽  
G. Heron ◽  
D. Perkins ◽  
A. Drage ◽  
O. Wargon

2019 ◽  
Vol 32 (Supplement_1) ◽  
Author(s):  
U I Møinichen ◽  
A Mikkelsen ◽  
A Faugli ◽  
I Holm ◽  
H I Jsselstijn ◽  
...  

Abstract Introduction Motor performance may be affected in children with esophageal atresia (EA), but the development of motor performance from infancy to adolescence has not been properly studied. We have followed EA patients from one to 15 years of age and assessed development of motor performance. Methods Of 44 EA patients, born 1999–2002, 3 died, 6 with missing data, 4 excluded, and 10 refused to participate. Of 21 children were included. Perinatal data collected from medical records, and physical therapy was registered. The children were evaluated with The Bayley Scale of Infant Development-Second Edition at one year of age, and re-evaluated in adolescence with The Motor Assessment Battery for Children Second Edition. Both tests are well validated for fine and gross motor performance. The motor performances was categorized as normal, at risk or delayed at both evaluations. Results Of 21 EA children (GA 38.7, range: 34–40.7), 4 (19%) were premature, 18 (86%) had Gross type C, major cardiac anomaly in 1, VACTERL in 4 (19%). At 15.1 months, 19/21 (90%) had motor performance within normal range, 1 child had delayed motor performance, and 1 child at risk for motor delay. At 15 years 15/21 (71%) had motor performance within normal range, 3/21 (14%) children showed delayed motor performance and 3/21 (14%) at risk for motor delay. 5/21 (24%) EA patients had deteriorated and 1/21 (5%) remained delayed in motor performance, when grown up from 1 to 15 years of age. The gross motor function most often affected in adolescence was the balance skills. Impaired motor performance was correlated to prematurity (r = .499, P = .021), but not to other perinatal morbidity factors. The EA patients had not been offered systematic follow-up physical therapy program during childhood. Conclusion Motor performance was within normal range in 90% of the EA infants, but in adolescence, only 71% of the patients showed normal motor performance. However, at one year of age it is hard to distinguish the children who have mild motor delay. Close monitoring in childhood might help to diagnose them earlier and offer appropriate intervention.


2020 ◽  
Vol 14 (2) ◽  
pp. 85-96
Author(s):  
Camila A. S. Santana ◽  
Ana Luiza R. Greco ◽  
Carolina F. da Silva ◽  
Eloisa Tudella

BACKGROUND:Low socioeconomic status (low-SES) is an important environmental risk factor for developmental delay in infants. Access to affordable early intervention strategies may be limited for this population.As it is a low cost and easily reproducible intervention, reaching training using sticky mittens as a facilitator can be easily conducted by parents at home or in clinics, improving manual ability and exploration, and thus helping to avoid possible motor delays in infants from low-SES families. AIM:To investigate the effects of reaching training using sticky mittens on manual reach and gross motor development of a 3 month-old full-term infant with low-SES. METHOD:The training using sticky mittens occurred on 5 consecutive days, for 20 minutes per day.A total of 6 assessments were performed to measure: the number of reaches, proximal and distal adjustments (Kinovea), gross motor development (AIMS), and quality/quantity of affordances at home (AHEMD-IS). RESULTS:After the training protocol, improved reaching ability was observed, with an increase in the number of reaches and bimanual adjustments, with hands open and verticalized. No improvements in other gross motor skills were observed. CONCLUSION:Reaching training using sticky mittens seems to be a potential and affordable early intervention strategy for infants from low-SES families at risk for motor delay.


2014 ◽  
Vol 3 (1) ◽  
pp. 52-59
Author(s):  
Arie Nugroho ◽  
Hardhono Susanto ◽  
Martha Irene Kartasurya

Background: Stunting is associated to the developmental delays of gross motor and fine motor skills. Previous studiedstate that micronutrient supplementation has a positive effect on both motor skills development in children aged under24 months.Objective: The aim of this study was to analysis the effect of micronutrient sprinkle on motor development amongstunted children aged 24 to 48 months.Methods: A quasi-controlled experimental group study with a total of 63 stunting age 24-48 months are divided intotreatment group (31 children) and controls (32 children). Treatment group received micronutrient sprinklesupplementation once in two days for two months. Fine and gross motor development was measured by DDST II beforeand after intervention.Results: There was no difference in age, sex, energy intake, protein, zinc, folic acid and developmental delaypercentage before treatment. The percentage of fine motor delays before treatment was 48.4% in the treatment groupand 53.1% in the control group, while the percent of gross motor delay was 32.3% in the treatment group 34.4% in thecontrol group. After intervention, the percentage of fine motor developmental delays significant decreases 25.8%, in thetreatment group and 34.4% in the control group, while the percentage of gross motor delay in the control groupsignificant decreased to 12.5%, but not significant decreased to 16,1% in the treatment group. Confounding variablesin this study were include energy adequacy level, protein adequacy level, zinc, iron and folic acid. There was nodifferences percentage of developmental delays on fine motor (p= 0,514) and gross motor (p= 0,571) after theintervention and after controlling with confounding variables.Conclusion: Micronutrient sprinkle supplementation for two months did not influence the development of fine motorskills gross motor skills on stunting preschooler children age 24 to 48 months


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