scholarly journals GENETICALLY DETERMINED DISEASES IN THE STRUCTURE OF CEREBRAL PALSY IN CHILDREN

2019 ◽  
Vol 21 (6) ◽  
pp. 324-330
Author(s):  
Lale A. Pak ◽  
L. M. Kuzenkova ◽  
A. P. Fisenko ◽  
A. V. Naidenko
Keyword(s):  
Cerebral Palsy ◽  
Clinical Symptoms ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Hereditary Diseases ◽  
Spastic Cerebral Palsy ◽  
Spastic Diplegia ◽  
Genetic Studies ◽  
Children With Cerebral Palsy ◽  
Genetically Determined

There are presented results of own clinical studies of instrumental characteristics of children with hereditary diseases, initially observed with a diagnosis of cerebral palsy. Under the supervision, there were 44 children aged 2 to 16 years, including 23 boys and 21 girls. All patients were diagnosed with cerebral palsy at different age periods of life. At the same time, another type of cerebral palsy (G80.8) was established in 34 patients, spastic diplegia (G80.1) - in 5 patients, spastic cerebral palsy (G80.0) - in 4 children, pediatric hemiplegia (G80.2) - in 1 child. Prospective observation of patients revealed they to have separate phenotypic features not typical of cerebral palsy and brain MRI data, which determined the need to continue the diagnostic search with the involvement of molecular genetic studies and allowed us verifying a variety of genetically determined diseases. There is presented a comparative analysis of clinical symptoms and results of examinations of patients with genetically determined diseases and children with cerebral palsy.

Immediate Effects of the Dorsiflexion Angle of Hinged Ankle-foot Orthosis on the Spatiotemporal Gait Parameters of Children With Spastic Cerebral Palsy

2021 ◽  
Author(s):  
IlHyun Son ◽  
GyuChang Lee
Keyword(s):  
Cerebral Palsy ◽  
Stride Length ◽  
Step Length ◽  
Gait Velocity ◽  
Spastic Cerebral Palsy ◽  
Spastic Diplegia ◽  
Ankle Foot Orthosis ◽  
Gait Parameters ◽  
Children With Cerebral Palsy ◽  
Foot Orthosis

Abstract Background: It has been reported the effects of a hinged ankle-foot orthosis on the gait ability of children with cerebral palsy. However, no studies investigated the effects of the dorsiflexion angle of the hinged ankle-foot orthosis on the spatiotemporal gait parameters of children with cerebral palsy. This study aimed to investigate the immediate effects of a 10° dorsiflexion inducing ankle-foot orthosis the spatiotemporal gait parameters of children with spastic diplegia compared to barefoot and a hinged ankle-foot orthosis.Methods: This study was cross-over design. 10 children with spastic diplegia were walked with barefoot, a hinged ankle-foot orthosis, and a 10° dorsiflexion inducing ankle-foot orthosis. GAITRite was used to collect the spatiotemporal gait parameters including gait velocity, cadence, step length, stride length, single leg support, and double leg support. Results: It showed that a 10° dorsiflexion inducing ankle-foot orthosis significantly improved the gait velocity, cadence, step length, stride length, single leg support, and double leg support than barefoot and a hinged ankle-foot orthosis (p<.05). Conclusion: The results of this study implied that a 10° dorsiflexion inducing ankle-foot orthosis could improve the gait ability of children with spastic diplegia more than barefoot or a hinged ankle-foot orthosis. High quality future studies will need to examine the effects of hinged ankle-foot orthosis on gait ability according to dorsiflexion angles.

CLINICAL OBSERVATIONS OF JOUBERT SYNDROME IN NEWBORNS

2021 ◽  
Vol 100 (1) ◽  
pp. 259-263
Author(s):  
G.S. Golosnaya ◽  
◽  
M.Yu. Novikov ◽  
N.Yu. Knyazeva ◽  
D.Yu. Volodina ◽  
...  
Keyword(s):  
Intellectual Development ◽  
Clinical Symptoms ◽  
Genetic Diseases ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Brain Magnetic Resonance Imaging ◽  
Complete Information ◽  
Joubert Syndrome ◽  
Hereditary Diseases ◽  
Older Children

Diagnostics of hereditary diseases is one of the important tasks of the perinatal center (PC) team. Functioning conditions of PC pediatric departments allow to verify the diagnosis early, so doctors and parents of a child can receive complete information about the state of his health and development prognosis as early as possible. Over the past year, researchers observed two newborns with Joubert syndrome (JS). The difficulty in JS diagnosing is the incomplete implementation of clinical symptoms or even their absence during the neonatal period. In newborns, this diagnosis can only be made with brain magnetic resonance imaging (MRI) and consulting a geneticist. Symptoms in this pathology differ in their severity when examining older children. Apnea, oculomotor disorders, muscle hypotonia, hearing disorders are more common, and sometimes there may be delayed intellectual development. JS is diagnosed on the basis of neurological examination, brain MRI, molecular genetic studies. In the literature, there were no description of JS in newborns. Diagnostic criteria for JS can be defined as oculomotor disorders, muscle hypotension, and respiratory failure. The opportunity to consult specialists – a neurologist, geneticist, ophthalmologist, ultrasound examinations as quickly as possible, determination of tactics of further examination and management of the child will increase the detection of genetic diseases, including JS, at the earliest stage of observation.

Efficiency of image visualization simulator technology for physical rehabilitation of children with cerebral palsy through play

2019 ◽  
pp. 39-46 ◽  
Author(s):  
V.V. Gorelik ◽  
S.N. Filippova ◽  
V.S. Belyaev ◽  
E.V. Karlova
Keyword(s):  
Virtual Reality ◽  
Cerebral Palsy ◽  
Physical Therapy ◽  
Physical Rehabilitation ◽  
Spastic Cerebral Palsy ◽  
Control Group ◽  
Spastic Diplegia ◽  
Training Simulator ◽  
Image Visualization ◽  
Children With Cerebral Palsy

The number of children born with cerebral palsy (CP) remains stably high. Novel approaches for rehabilitation of such patients are being sought. This study aimed to define the efficiency of the image visualization technologies in play activity for the physical rehabilitation of children with cerebral palsy. Sixteen boys with spastic diplegia aged 7–9 participated in the study. They were divided into treatment group (TG) and control group (CG), 8 children each. The TG patients were trained using the virtual reality based Krisaf training simulator twice a week for 40 minutes during 8 months. The child was suspended in the horizontal position and looked at the monitor through the specialised eyeglasses. Under the conditions of the marine environment immersion simulation with reduced gravity children performed motor tasks through play: searched for treasures, competed with dolphins etc. The CG patients attended the physical therapy lessons. Rehabilitation lessons using the virtual reality based Krisaf training simulator for children affected with spastic cerebral palsy led to a significant improvement of motor skills. Various motion tests showed an improvement over baseline, the average indicators increased 1.30–1.48 times. The difference between TG and CG results was statistically significant. In the CG referred to physical therapy the indicators increase was less than 10%, in the TG the increase reached 30–40%. It was concluded that the use of virtual reality based technologies promotes the optimization of neurophysiological processes in the motor analyzer cortical areas and better adaptation to motor loads.

scholarly journals Ocular defect in children with cerebral palsy and its correlation with the types of cerebral palsy

2021 ◽  
Vol 8 (4) ◽  
pp. 609
Author(s):  
Wasim Abed Aumi ◽  
Farhana Afroz ◽  
Shams Ibne Maksud ◽  
Mohammad Mahbubul Alam
Keyword(s):  
Cerebral Palsy ◽  
Refractive Error ◽  
Pathological Finding ◽  
Spastic Cerebral Palsy ◽  
Spastic Diplegia ◽  
Ophthalmological Examination ◽  
Musculoskeletal Problem ◽  
Spastic Quadriplegia ◽  
Ocular Defect ◽  
Children With Cerebral Palsy

Background: Cerebral palsy (CP) describes a group of permanent disorder of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbance that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication and behavior, by epilepsy, and secondary musculoskeletal problem. However, no known study has been found on this aspect. Objective of this study was to evaluate the ocular defect in children with cerebral palsy and to correlate with the types of CP.Methods: Study was done in the Paediatric Neurology unit of BSMMU from January 2012 to July 2012. One hundred thirty children with cerebral palsy were studied. The patients were randomly selected who full filled the inclusion criteria and ophthalmological examination was done.Results: Sixty four (64%) of CP patients had pathological finding and 36% percent had normal finding. Most of the abnormalities were squint (strabismus) (40%) and refractive error (36.9%). Most of the ocular defects were found in spastic cerebral palsy, mainly in spastic quadriplegia (34.6%) and spastic diplegia (29.2%).Conclusions: Ocular defect like squint and refractive error common associations of cerebral palsy. Spastic quadriplegic and diplegic children had more ocular defects.

Discontinuation of Antiepileptic Drug Treatment After Two Seizure-free Years in Children With Cerebral Palsy

PEDIATRICS ◽  
1996 ◽  
Vol 97 (2) ◽  
pp. 192-197
Author(s):  
Mauricio R. Delgado ◽  
Anthony R. Riela ◽  
Janith Mills ◽  
Alan Pitt ◽  
Richard Browne
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Antiepileptic Drug ◽  
Spastic Diplegia ◽  
Multiple Factors ◽  
Spastic Hemiparesis ◽  
Children With Cerebral Palsy ◽  
Epileptic Children ◽  
Seizure Relapse ◽  
Antiepileptic Drug Treatment

Objective. The risk of seizure relapse after antiepileptic drug (AED) discontinuation in children has been reported to vary between 6% and 40%. It has been suggested that neurologic deficit and mental retardation are poor prognostic factors for seizure relapse after AED discontinuation. Because epileptic children with cerebral palsy (CP) have neurologic deficits, and many have mental retardation, it is important to know their risk for seizure relapse. Methods. AED treatment was discontinued in 65 children with CP and histories of epilepsy after 2 seizure-free years. All of the patients were followed until they had seizure relapses or for at least 2 years without seizures after AEDs were stopped. Multiple factors were analyzed for possible association with seizure relapse. Results. Twenty-seven patients (41.5%) had seizure relapses. Patients with spastic hemiparesis had the highest relapse rate (61.5%), and those with spastic diplegia had the lowest rate (14.3%). No other factor correlated significantly with the risk of seizure relapse. Conclusions. Discontinuation of AEDs in children with CP can, and should, be practiced when possible after patients have been seizure-free for at least 2 years. AED discontinuation in patients with spastic hemiparesis is significantly more likely to lead to seizure relapse than in patients with other CP types, but no other factor is yet known to increase the chance of relapse.

scholarly journals Therapeutic effects of a horse riding simulator in children with cerebral palsy

2011 ◽  
Vol 69 (5) ◽  
pp. 799-804 ◽  
Author(s):  
Maria Beatriz Silva Borges ◽  
Maria José da Silva Werneck ◽  
Maria de Lourdes da Silva ◽  
Lenora Gandolfi ◽  
Riccardo Pratesi
Keyword(s):  
Cerebral Palsy ◽  
Postural Control ◽  
Qualité De Vie ◽  
Spastic Diplegia ◽  
Therapeutic Effects ◽  
Sitting Position ◽  
Post Intervention ◽  
Horse Riding ◽  
Children With Cerebral Palsy ◽  
Maximal Displacement

OBJECTIVE: To evaluate the efficacy of horse ridding simulator on the sitting postural control of children with spastic diplegia. METHOD: Forty children were randomly divided in a group using the simulator (RS) and a group performing conventional physical therapy (CT). FScan/Fmat equipment was used to register maximal displacement in antero-posterior (AP) and medio-lateral (ML) directions with children in sitting position. At the pre and post intervention stage both groups were classified according to the Gross Motor Function Classification System (GMFCS) and, after intervention, by the AUQEI questionnaire (Autoquestionnaire Qualité de vie Enfant Image). RESULTS: Comparison between groups disclosed statistically significant pos-intervention improvement both in the AP (p<0.0001) as in the ML (p<0.0069) direction in the RS group. CONCLUSION: The horse ridding simulator produced significant improvement in the postural control of children in sitting position, additionally showing a higher motor functionality and a better acceptance of the therapeutic intervention.

scholarly journals Intrathecal baclofen infusion and subsequent orthopedic surgery in patients with spastic cerebral palsy

1998 ◽  
Vol 4 (1) ◽  
pp. E7 ◽  
Author(s):  
Peter C. Gerszten ◽  
A. Leland Albright ◽  
Graham F. Johnstone
Keyword(s):  
Cerebral Palsy ◽  
Lower Extremity ◽  
Orthopedic Surgery ◽  
Intrathecal Baclofen ◽  
Orthopedic Procedures ◽  
Spastic Cerebral Palsy ◽  
Spastic Diplegia ◽  
Spastic Quadriplegia ◽  
Orthopedic Operation ◽  
The Mean

Intrathecal baclofen infusion (IBI) is an effective treatment for spasticity secondary to cerebral palsy (CP). The authors retrospectively reviewed the need for orthopedic surgery of the lower extremities in 48 patients with spastic CP who were treated with IBI. Forty pumps were placed in patients suffering from spastic quadriplegia (84%) and eight (16%) in patients with spastic diplegia. The patients' ages ranged from 5 to 43 years (mean 15 years). The mean follow-up period was 53 months (range 22-94 months). The mean baclofen dosage was 306 μg/day (range 25-1350 μg/day). At the time of pump placement, subsequent orthopedic surgery was planned in 28 patients (58%); however, only 10 (21%) underwent orthopedic surgery after IBI therapy. In all 10 cases, the surgical procedure was planned at the time of initial evaluation for IBI therapy. In the remaining 18 patients, who did not subsequently undergo their planned orthopedic operation, it was believed that their lower-extremity spasticity had improved to the degree that orthopedic intervention was no longer indicated. In addition, although six patients had undergone multiple orthopedic operations before their spasticity was treated, no patient required more than one orthopedic operation after IBI treatment for their spasticity. The authors conclude that IBI for treatment of spastic CP reduces the need for subsequent orthopedic surgery for the effects of lower-extremity spasticity. In patients with spastic CP and lower-extremity contractures, spasticity should be treated before orthopedic procedures are performed.

scholarly journals Evaluation of Autonomic Nervous System in Children With Cerebral Palsy: Clinical and Electophysiological Study

2021 ◽  
Author(s):  
Hanan Galal Azouz ◽  
Ali M Abdel Mohsen ◽  
Rana M Mohamed ◽  
hayam mostafa abdelghany
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Cerebral Palsy ◽  
Autonomic Dysfunction ◽  
Sympathetic Skin Response ◽  
Spastic Cerebral Palsy ◽  
Control Group ◽  
Healthy Children ◽  
Children With Cerebral Palsy ◽  
Skin Response

Abstract Cerebral palsy (CP) is the most prevalent severe motor disability among children. The aim of this work was to assess autonomic dysfunction in children with cerebral palsy clinically and electrophysiologically .The study was carried out on forty children with cerebral palsy their age ranged from 4-12 years and twenty healthy children with matched age and sex as control group. CP children were subjected to questionnaire for autonomic dysfunction symptoms. Both CP children and Control group were assessed for Sympathetic Skin Response and Heart rate variability. Most of children had quadriplegic spastic cerebral palsy (82.5%). Based on Gross motor function classification system (GMFCS) classification the majority of children were in levels 4 and 5. The prevalence of autonomic dysfunction symptoms was 80% for thermoregulatory abnormalities (cold extremities), chronic constipation 65%, sleep disturbance 52.5%, loss of appetite 47.5%, sweating abnormalities 40% , recurrent nausea and/or vomiting 25%, increased sensitivity to light or dark 22.5% and bloating 15%. The percentage of unelicited Sympathetic skin response in CP children was 47.5% and 60% in upper limbs and lower limbs respectively, all of them were in level 4 and 5 of GMFCS. 20% of CP children had postural hypotension. Mean Heart rate of CP children was significantly increased more than healthy children upon head tilt test. Sympathetic Skin Response and Heart rate variability were proven to be simple and non invasive procedures in investigating autonomic dysfunction in CP children.

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