scholarly journals Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1648
Author(s):  
Sandy Siegert ◽  
Gabriel T. Mindler ◽  
Christof Brücke ◽  
Andreas Kranzl ◽  
Janina Patsch ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Joubert Syndrome ◽  
Single Family ◽  
Related Disorder ◽  
Abnormal Gait ◽  
Duane Syndrome ◽  
Neurogenetic Disorders ◽  
Gait Abnormalities ◽  
Callosal Dysgenesis ◽  
Hip Rotation

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

Bone ◽  
2019 ◽  
Vol 120 ◽  
pp. 354-363 ◽  
Author(s):  
Eliza Thompson ◽  
Ebtesam Abdalla ◽  
Andrea Superti-Furga ◽  
William McAlister ◽  
Lisa Kratz ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Related Disorder ◽  
Lamin B ◽  
Lamin B Receptor

The validity of video clips in the diagnosis of gait disorder

2007 ◽  
Vol 13 (7) ◽  
pp. 333-336 ◽  
Author(s):  
Salih A Salih ◽  
Richard Wootton ◽  
Elaine Beller ◽  
Len Gray
Keyword(s):  
Gold Standard ◽  
Video Clip ◽  
Clinical Documentation ◽  
Gait Disorder ◽  
Average Sensitivity ◽  
Gait Patterns ◽  
Video Clips ◽  
Normal Gait ◽  
Abnormal Gait ◽  
Gait Abnormalities

We investigated the accuracy and validity of clinical gait assessment, performed by experienced geriatricians viewing video clips of 10 s duration. Nineteen patients with normal or characteristic abnormal gait patterns were studied. The treating physician's diagnosis served as the gold standard. Another live assessment was then performed by a geriatrician blinded to the medical record to establish inter-rater reliability of live assessments. Subsequently, each gait video clip was examined by two independent geriatricians without any background clinical documentation. Diagnostic accuracy was tested at two levels – whether the gait was abnormal, and the specific gait diagnosis. The agreement of the video clip examination with the gold standard to identify abnormal gait from normal gait ranged from substantial to excellent among assessors ( κ = 0.68–0.85), although low agreement with the gold standard was achieved in the detection of specific gait diagnosis (average agreement between both viewing geriatricians 50%). The technique appears to be a valid screening procedure for detecting gait abnormalities (average sensitivity 100%, specificity 70%).

Identification of Postconcussion Dual-Task Gait Abnormalities Using Normative Reference Values

2019 ◽  
Vol 35 (4) ◽  
pp. 290-296 ◽  
Author(s):  
David R. Howell ◽  
Thomas A. Buckley ◽  
Brant Berkstresser ◽  
Francis Wang ◽  
William P. Meehan
Keyword(s):  
Reference Values ◽  
Dual Task ◽  
Gait Speed ◽  
Step Length ◽  
Normative Values ◽  
Control Group ◽  
Single Task ◽  
Abnormal Gait ◽  
Confounding Variables ◽  
Gait Abnormalities

The purpose of this study was to identify the rate of abnormal single-task and dual-task gait performance following concussion compared to uninjured controls using previously established normative reference values. The authors examined athletes with a concussion (n = 54; mean age = 20.3 [1.1] y, 46% female, tested 2.9 [1.5] d postinjury), and healthy controls were tested during their preseason baseline examination (n = 60; mean age = 18.9 [0.7] y, 37% female). Participants completed an instrumented single-/dual-task gait evaluation. Outcome variables included average walking speed, cadence, and step length. A significantly greater number of those with concussion walked with abnormal dual-task gait speed compared with the control group (56% vs 30%,P = .01). After adjusting for potential confounding variables (age, concussion history, symptom severity, and sleep), concussion was associated with lower dual-task gait speed (β = −0.150; 95% confidence interval [CI] = −0.252 to −0.047), cadence (β = −8.179; 95% CI = −14.49 to −1.871), and stride length (β = −0.109; 95% CI = −0.204 to −0.014). Although group analyses indicated that those with a concussion performed worse on single-task and dual-task gait compared with controls, a higher rate of abnormal gait was detected for the concussion group compared with the control group for dual-task gait speed only. Dual-task gait speed, therefore, may be considered as a measure to compare against normative values to detect postconcussion impairments.

scholarly journals MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

2009 ◽  
Vol 30 (2) ◽  
pp. E432-E442 ◽  
Author(s):  
Francesco Brancati ◽  
Miriam Iannicelli ◽  
Lorena Travaglini ◽  
Annalisa Mazzotta ◽  
Enrico Bertini ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Liver Involvement ◽  
Related Disorder

scholarly journals Ethnicity and Geographic Distribution of Pediatric Chronic Ataxia in Manitoba

2014 ◽  
Vol 41 (1) ◽  
pp. 29-36 ◽  
Author(s):  
Michael S. Salman ◽  
Shaheen Masood ◽  
Meghan Azad ◽  
Bernard N. Chodirker
Keyword(s):  
Ethnic Groups ◽  
Geographic Distribution ◽  
Joubert Syndrome ◽  
Unknown Etiology ◽  
Multiple Sources ◽  
Related Disorder ◽  
Pyramidal Tracts ◽  
Neuronal Migration Disorders ◽  
Progressive Ataxia ◽  
Genetic And Environmental Factors

Background:Genetic and environmental factors are important determinants of disease distribution. Several disorders associated with ataxia are known to occur more commonly in certain ethnic groups; for example, the disequilibrium syndrome in the Hutterites. The aim of this study was to determine the ethnic and geographic distribution of pediatric patients with chronic ataxia in Manitoba, Canada.Methods:We identified 184 patients less than 17 years-of-age with chronic ataxia during 1991-2008 from multiple sources. Their diagnosis, ethnicity and place of residence were determined following a chart review.Results:Most patients resided in Manitoba (N=177) and the majority in Winnipeg, the provincial capital. Thirty five Aboriginal, 29 Mennonite and 11 Hutterite patients resided in Manitoba. The latter two groups were significantly overrepresented in our cohort. Ataxia telangiectasia, mitochondrial disorders, and non-progressive ataxia of unknown etiology associated with pyramidal tracts signs and developmental delay were significantly more common in Mennonite patients. Four of five patients with neuronal migration disorders associated with chronic ataxia were Aboriginal. Few isolated disorders with chronic ataxia occurred in the 11 Hutterite patients including a Joubert syndrome related disorder.Conclusions:Three disorders associated with chronic ataxia were more prevalent than expected in Mennonites in Manitoba. Few rare disorders were more prevalent in the Hutterite and Aboriginal population. Further research is needed to determine the risk factors underlying these variations in prevalence within different ethnic groups. The unique risk factor profiles of each ethnic group need to be considered in health promotion endeavors.

EXPLOITING VISUAL CUES FOR LEARNING GAIT PATTERNS ASSOCIATED WITH NEUROLOGICAL DISORDERS

2017 ◽  
Vol 79 (3) ◽  
Author(s):  
Kuhelee Roy ◽  
Geelapaturu Subrahmanya Venkata Radha Krish Rao ◽  
Savarimuthu, Margret Anouncia
Keyword(s):  
Early Diagnosis ◽  
Real Time ◽  
Neurological Disorders ◽  
Visual Cues ◽  
Gait Pattern ◽  
Shape Features ◽  
Gait Patterns ◽  
Normal Gait ◽  
Abnormal Gait ◽  
Gait Abnormalities

Records of cases involving neurological disorders often exhibit abnormalities in the gait pattern of an individual. As mentioned in various articles, the causes of various gait disorders can be attributed to neurological disorders. Hence analysis of gait abnormalities can be a key to predict the type of neurological disorders as a part of early diagnosis. A number of sensor-based measurements have aided towards quantifying the degree of abnormalities in a gait pattern. A shape oriented motion based approach has been proposed in this paper to envisage the task of classifying an abnormal gait pattern into one of the five types of gait viz. Parkinsonian, Scissor, Spastic, Steppage and Normal gait. The motion and shape features for two cases viz. right-leg-front and left-leg-front will be taken into account. Experimental results of application on real-time videos suggest the reliability of the proposed method.

scholarly journals Detection of Gait Abnormalities for Fall Risk Assessment Using Wrist-Worn Inertial Sensors and Deep Learning

Sensors ◽  
2020 ◽  
Vol 20 (18) ◽  
pp. 5373
Author(s):  
Ivana Kiprijanovska ◽  
Hristijan Gjoreski ◽  
Matjaž Gams
Keyword(s):  
Risk Assessment ◽  
Fall Risk ◽  
Short Term Memory ◽  
Wearable Sensors ◽  
Measurement Unit ◽  
Fall Risk Assessment ◽  
Abnormal Gait ◽  
Sensor Signals ◽  
Using Data ◽  
Gait Abnormalities

Falls are a significant threat to the health and independence of elderly people and represent an enormous burden on the healthcare system. Successfully predicting falls could be of great help, yet this requires a timely and accurate fall risk assessment. Gait abnormalities are one of the best predictive signs of underlying locomotion conditions and precursors of falls. The advent of wearable sensors and wrist-worn devices provides new opportunities for continuous and unobtrusive monitoring of gait during daily activities, including the identification of unexpected changes in gait. To this end, we present in this paper a novel method for determining gait abnormalities based on a wrist-worn device and a deep neural network. It integrates convolutional and bidirectional long short-term memory layers for successful learning of spatiotemporal features from multiple sensor signals. The proposed method was evaluated using data from 18 subjects, who recorded their normal gait and simulated abnormal gait while wearing impairment glasses. The data consist of inertial measurement unit (IMU) sensor signals obtained from smartwatches that the subjects wore on both wrists. Numerous experiments showed that the proposed method provides better results than the compared methods, achieving 88.9% accuracy, 90.6% sensitivity, and 86.2% specificity in the detection of abnormal walking patterns using data from an accelerometer, gyroscope, and rotation vector sensor. These results indicate that reliable fall risk assessment is possible based on the detection of walking abnormalities with the use of wearable sensors on a wrist.

scholarly journals Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 2726
Author(s):  
Garima Goyal ◽  
Ajay Arya
Keyword(s):  
Congenital Anomalies ◽  
Joubert Syndrome ◽  
Magnetic Resonance Images ◽  
Molar Tooth ◽  
Multicystic Dysplastic Kidney ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomalies ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Dysplastic Kidney

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

scholarly journals Joubert syndrome related disorder (JSRD): a case report and review of literature

2017 ◽  
Vol 4 (3) ◽  
pp. 1124
Author(s):  
Seema Sharma ◽  
Ajay Sharma ◽  
Vipin Sharma ◽  
Sandesh Guleria
Keyword(s):  
Case Report ◽  
Early Intervention ◽  
Eye Movements ◽  
Joubert Syndrome ◽  
Accurate Diagnosis ◽  
Review Of Literature ◽  
Radiological Findings ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Intervention Measures

Joubert syndrome and related disorder (JSRD) is a rare disorder of midline structure of brain having characteristic clinical and neuro-radiological findings. The hallmark of diagnosis is molar tooth sign (MTS). Early accurate diagnosis can help in planning early intervention measures to reduce the morbidity. We are hereby presenting a case of eight months old female infant with abnormal eye movements since birth along with developmental delay. Clinical and radiological evidence proved that child is having Joubert syndrome related disorder. 

scholarly journals High prevalence of gait abnormalities in pugs

2018 ◽  
Vol 182 (6) ◽  
pp. 167-167 ◽  
Author(s):  
Cecilia Rohdin ◽  
Karin Hultin Jäderlund ◽  
Ingrid Ljungvall ◽  
Kerstin Lindblad-Toh ◽  
Jens Häggström
Keyword(s):  
Prospective Study ◽  
Kennel Club ◽  
Future Studies ◽  
Video Footage ◽  
Gait Abnormality ◽  
Abnormal Gait ◽  
High Prevalence ◽  
Associated Conditions ◽  
Health Disorders ◽  
Gait Abnormalities

The objective of this prospective study was to determine the prevalence of gait abnormalities in a cohort of Swedish pugs by using an owner-based questionnaire targeting signs of gait abnormality and video footage showing the dog’s gait. This study also evaluated associated conditions of abnormal gait, including other health disorders prevalent in the breed. Five hundred and fifty (550) pugs registered in the Swedish Kennel Club, of one, five and eight years of age, in 2015 and 2016, were included in the study. Gait abnormalities were reported in 30.7 per cent of the responses. In the majority of cases, the character of the described gait indicated a neurological cause for the gait abnormality. An association was observed between abnormal gait and age, with gait abnormalities being significantly more common in older pugs (P=0.004). An association was also found between abnormal gait and dyspnoea, with dyspnoea being significantly more common in pugs with gait abnormalities (P<0.0001). This study demonstrated that the prevalence of gait abnormalities was high in the Swedish pug breed and increased with age. Future studies on the mechanisms behind these gait abnormalities are warranted.

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