Spastic Quadriplegia Research Articles

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.

Homozygous pathogenic variants in WDR45B were first identified in six subjects from three unrelated families with global development delay, refractory seizures, spastic quadriplegia, and brain malformations. Since the initial report in 2018, no further cases have been described. In this report, we present 12 additional individuals from seven unrelated families and their clinical, radiological, and molecular findings. Six different variants in WDR45B were identified, five of which are novel. Microcephaly and global developmental delay were observed in all subjects, and seizures and spastic quadriplegia in most. Common findings on brain imaging include cerebral atrophy, ex vacuo ventricular dilatation, brainstem volume loss, and symmetric under-opercularization. El-Hattab-Alkuraya syndrome is associated with a consistent phenotype characterized by early onset cerebral atrophy resulting in microcephaly, developmental delay, spastic quadriplegia, and seizures. The phenotype appears to be more severe among individuals with loss-of-function variants whereas those with missense variants were less severely affected suggesting a potential genotype-phenotype correlation in this disorder. A brain imaging pattern emerges which is consistent among individuals with loss-of-function variants and could potentially alert the neuroradiologists or clinician to consider WDR45B-related El-Hattab-Alkuraya syndrome.

Clinical and rehabilitative considerations in a complex case of spastic tetraplegia, mixed aphasia, secondary encephalopathy – post severe traumatic brain injury with hemorrhagic and is-chemic lesions – with favorable late evolution and post-symptomatic status after SARS-COV-2 infection

The traumatic brain injury remains a current research topic considering the severity and the in-creased incidence of this pathology. Both physical and neuro-psychological sequelae require a complex rehabilitation program. Material and methods. We describe the evolution of a 20-year-old case, victim of a severe traumatic brain injury due to physical aggression, with spastic te-traplegia, extended ischemia in the left cerebral hemisphere, mixed aphasia, post-traumatic en-cephalopathy, left eyelid ptosis, right paresis of nerve III, post remitted status of left subdural hematoma, post remitted status of right fronto-parietal subarachnoid hemorrhage, severe joint stiffness (right elbow and fist, bilateral hips and knees), cachexia and SARS-COV-2 infection. In our clinic the patient followed medical, complex kinetotherapeutic treatments and was functio-nally assessed using the following scales: modified Ashworth, Penn Spasm Frequency Scale ( Penn), Life Quality Assessment ( QOL ), Montreal Cognitive Assessment ( MoCA ), FAC Interna-tional Scale, Glasgow Outcome Scale-Extended (GOS-E), modified Rankin scale (mRS ). Results. During the hospitalization, the patient presented a favorable late evolution with a great impro-vement of motor and neurological deficit, aphasia in remision, improvement of eyelid ptosis and joint stiffness, fact also confirmed by the increasing scores from the evaluated scales. Con-clusions. Consequently in traumatic brain injury the proper medication, personalized rehabilita-tion program, ergotherapy, speech therapy, a great deal of involvement and documentation of current information is required to improve the patient's quality of life. Keywords: traumatic brain injury, neuro-rehabilitation program, spastic tetraplegia

Molybdenum cofactor deficiency: A natural history.

Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD‐A], MoCD‐B, and MoCD‐C) that cause sulfite intoxication disorders. This natural history study analyzed retrospective data for 58 living or deceased patients (MoCD‐A, n = 41; MoCD‐B, n = 17). MoCD genotype, survival, neuroimaging, and medical history were assessed retrospectively. Prospective biomarker data were collected for 21 living MoCD patients. The primary endpoint was survival to 1 year of age in MoCD‐A patients. Of the 58 MoCD patients, 49 (MoCD‐A, n = 36; MoCD‐B, n = 13) had first presenting symptoms by Day 28 (neonatal onset; median: 2 and 4 days, respectively). One‐year survival rates were 77.4% (overall), 71.8% (neonatal onset MoCD‐A), and 76.9% (neonatal onset MoCD‐B); median ages at death were 2.4, 2.4, and 2.2 years, respectively. The most common presenting symptoms in the overall population were seizures (60.3%) and feeding difficulties (53.4%). Sequelae included profound developmental delay, truncal hypotonia, limb hypertonia that evolved to spastic quadriplegia or diplegia, dysmorphic features, and acquired microcephaly. In MoCD‐A and MoCD‐B, plasma and urinary xanthine and S‐sulfocysteine concentrations were high; urate remained below the normal reference range. MOCS1 mutation homozygosity was common. Six novel mutations were identified. MoCD is a severe neurodegenerative disorder that often manifests during the neonatal period with intractable seizures and feeding difficulties, with rapidly progressive significant neurologic disabilities and high 1‐year mortality rates. Delineation of MoCD natural history supports evaluations of emerging replacement therapy with cPMP for MoCD‐A, which may modify disease course for affected individuals.

Dorsal rhizotomy in cerebral palsy: How root sectioning is influenced by intraoperative neuromonitoring?

Introduction and objectiveDorsal rhizotomy is a controversial procedure for treating spasticity in children with cerebral palsy, particularly regarding the influence of intraoperative neuromonitoring (ION). The objective of this study was to evaluate the influence of ION in adjusting root sectioning compared the preoperative program established by the multidisciplinary team. Material and methodsTwenty-four consecutive children with spastic diplegia or quadriplegia, operated on between 2017 and 2020 in the University Hospital of Nancy, France, were studied. All underwent the same procedure: Keyhole Intralaminar Dorsal rhizotomy (KIDr) with enlarged multilevel interlaminar openings to access all roots from L2 to S2. The Ventral Root (VR) was stimulated to map radicular myotomes, and the Dorsal Root (DR) to test excitability of the segmental circuitry. Muscle responses were observed independently by the physiotherapist and by EMG-recordings. The study compared final root sectioning per radicular level and per side after ION versus the preoperative program determined by the multidisciplinary team. ResultsION resulted in significant differences in final percentage root sectioning (P<0.05), with a decrease for L2 and L3 and an increase for L5. ION modified the symmetry of sectioning, with 32% instead of 5% in preoperative program. Only 5 children showed change in GMFC score 6 months after surgery. ConclusionThe use of ION during dorsal rhizotomy led to important modifications of root sectioning during surgery, which justifies individual control of each root, level by level and side by side, to optimize the therapeutic effect.

Epidemiological, clinical, and treatment-related features of children with cerebral palsy in Cameroon: A hospital-based study

BackgroundPediatric cerebral palsy (CP) remains a poorly studied public health problem in sub-Saharan Africa, especially in Cameroon. This study aimed at determining the epidemiological, clinical, and treatment-related characteristics of CP in Cameroonian children. MethodsA cross-sectional study was conducted at the pediatric department of the Douala Gynaeco-Obstetric and Pediatric Hospital (DGOPH). Medical records of children attending the department during the study period were reviewed. Only medical records of children aged from 3 months to 15 years and diagnosed with CP were included. Parents/guardians of children presenting with CP were contacted and invited to come with their children to the DGOPH where they were examined by a pediatric neurologist. A questionnaire designed for the study was used to collect sociodemographic, clinical, paraclinical, and treatment data for each child. ResultsOut of the 4064 medical records reviewed, CP was diagnosed in 198 children (4.86%). These children were predominantly male (53.6%), aged 3–24 months (54.0%). Perinatal disorders were the main CP etiologies, especially neonatal asphyxia (55.1%), jaundice (32.8%), and neonatal infections (25.8%). Most of the children were born at term (81.6%) and by vaginal delivery (62.6%), with a normal birth weight (83.2%). Several comorbidities were found including speech delay (74.2%) and epilepsy (34.4%). The patients with CP presented predominantly with the spastic form of the disease, especially spastic quadriplegia (44.3%). Less than half of the children were managed at hospital, while the majority of parents were following various traditional treatments. ConclusionAddressing preventable causes of CP and improving awareness in the population will be of great help to reduce CP in Cameroon.

Aicardi-Goutières Syndrome: About a 7-Month-Old Infant

The Aicardi-Goutières syndrome is an encephalopathy characterized by an arrest of psychomotor development in the first months of life, spastic tetraplegia spastic tetraplegia, abnormal movements and acquired microcephaly. Neuroimaging reveals calcifications of the basal ganglia and cerebrospinal fluid (CSF) study shows lymphocytosis. Our patient is a 7 month old child, from a 1st degree consanguineous marriage. She presents a psychomotor delay with hypotonia, nystagmus and convulsive myoclonic seizures. Cerebral CT shows an active tri ventricular hydrocephalus with multiple parenchymal calcifications with multiple cerebral parenchymal calcifications and basal ganglia of infectious appearance. The intercritical sleep EEG was unremarkable. Ophthalmological examination, including an EPI, revealed a probable retinal dystrophy predominantly on the scopic system. Brain MRI shows a mesencephalic atrophy of the annular protuberance and increased volume of the volume of the cisterns of the posterior cerebral fossa. The dosage of interferon alpha in the CSF is increased to 113 pg /ml.

KOMORBIDITAS PENYANDANG CEREBRAL PALSY DI KOMUNITAS CEREBRAL PALSY METRO

The condition of one of the disabled people is various, one of which is Cerebral Palsy. Most children with Cerebral Palsy have at least one comorbid disorder or comorbidity. In the SCPE data, the most common comorbidities found were language disorders (71%), followed by intellectual disorders (62%), epilepsy (39%), and visual disturbances (22%). The survival of patients who depend on the severity of disability experienced in the Cerebral Palsy Metro community. Design This study is a descriptive analytic study using a cross sectional or cross-sectional design. In the cross sectional design used a transverse approach, where observations of the independent variable and the dependent variable were carried out only once at the same time. With a total sample of 50. The research subjects were 31 men (62%) and 19 women (38%), with a sample of age range between 0-18 years. Most participants were in the type of Spastic Quadriplegia CP. Outcomes of Comorbid Cerebral Palsy in study subjects. Intellectual disability is 30 (60%), Epilepsy is 19 (38%), Visual impairment is 3(6%), Speech disorder is 37(74%), Development and growth disorders is 14(28%), Defecation disorders 10 (20% ), Respiratory Disorders 4 (8%), Orthopedic disorders Ankle deformities 23(46%), Scoliosis deformity disorders 21 (42%), Hip subluxation disorders 9(18%), Sleep disturbances 11 (22%), which were individual Cerebral Palsy has at most three comorbidities and is mostly owned by the Spastic Quadriplegia CP type. Comorbidities in people with cerebral palsy in the metro cerebral palsy community were the most common in speech disorders and more than three comorbidities were found in cerebral palsy individuals with the type of spastic Quadriplegia CP.

MANAGEMENT OF SPASTIC QUADRIPLEGIA (SARVANGGHAT) WITH VATKULANTAK RASA &amp; SHASHTIKA SHALI PINDA SWEDA - A CASE STUDY

Background- Spastic Quadriplegia also known as spastic tetraplegia is a subset of Spastic cerebral palsy that af- fects all four limbs (both arms and legs). Spastic quadriplegia usually displays equal involvement of both upper and lower extremities with severe involvement of legs, arms and floppiness of neck. Spastic quadriplegia is gen- erally caused by brain damage either before birth, during or shortly after. In Ayurveda quadriplegia can be corre- lated with Sarvangghat which is a vatavyadhi. It is a nanatmaja vatavyadhi according to charaka. As the disease was caused by vata-kapha dosha. The treatment is mainly aimed at mitigating vata kapha dosha which helps to clear the blocked micro-channels involved in the pathology. Aim and objective- To study the effect of Vatkulan- taka rasa and Shashtika shali pinda sweda in the management of Spastic quadriplegia (Sarvangghat). Material and methods-The present case study is upon 16 years old (male patient) diagnosed case of spastic quadriplegia with complaints of difficulty in walking with stiffness for 6 years at the kayachikitsa IPD of Pt. khushilal Sharma govt. ayurvedic hospital Bhopal. He was treated with shashtika shali pind sweda &amp; Vatkulantaka rasa. The dura- tion of the study is 21 days. The assessment was done on the basis of symptomatic relief after treatment. Observation- The Ayurvedic therapy and oral medication yielded complete symptomatic relief from pain, stiffness and improve quality of life. Conclusion- On the basis of the result obtained, it can be concluded that Shashtika shali pinda sweda and Vatku- lantaka rasa can be used as an effective treatment in the management of Spastic quadriplegia (Sarvangghat). Keywords: Sarvangghat, Spastic quadriplegia, Shashtika shali pinda sweda, Vatkulantaka rasa.

A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching

Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neuropathies affecting upper motor neurons and causing progressive gait disorder. Mutations in the gene SPG3A/atlastin-1 (ATL1), encoding a dynamin superfamily member, which utilizes the energy from GTP hydrolysis for membrane tethering and fusion to promote the formation of a highly branched, smooth endoplasmic reticulum (ER), account for approximately 10% of all HSP cases. The continued discovery and characterization of novel disease mutations are crucial for our understanding of HSP pathogenesis and potential treatments. Here, we report a novel disease-causing, in-frame insertion in the ATL1 gene, leading to inclusion of an additional asparagine residue at position 417 (N417ins). This mutation correlates with complex, early-onset spastic quadriplegia affecting all four extremities, generalized dystonia, and a thinning of the corpus callosum. We show using limited proteolysis and FRET-based studies that this novel insertion affects a region in the protein central to intramolecular interactions and GTPase-driven conformational change, and that this insertion mutation is associated with an aberrant prehydrolysis state. While GTPase activity remains unaffected by the insertion, membrane tethering is increased, indicative of a gain-of-function disease mechanism uncommon for ATL1-associated pathologies. In conclusion, our results identify a novel insertion mutation with altered membrane tethering activity that is associated with spastic quadriplegia, potentially uncovering a broad spectrum of molecular mechanisms that may affect neuronal function.

Oral Motor Treatment Efficacy: Feeding and Swallowing Skills in Children with Cerebral Palsy.

This study is aimed at identifying the relationship between oral motor treatment and the improvement of abilities for feeding and swallowing in boys and girls with CP residing in the state of Yucatán. The sample consisted of 30 patients with a diagnosis of CP and the presence of ADT, with gross motor function levels from II to V, between 3 and 14 years old, of which 50% received oral motor treatment. The predominant diagnosis was spastic CP and tetraplegia. An interview was carried out with the tutor, the application of the gross motor skills scale, and an assessment of feeding skills. The feeding and swallowing skills that improved significantly with the oral motor treatment were mandibular mobility, tongue activity, abnormal reflexes, control of breathing, and general oral motor skills (p ≤ 0.05). Within the sample that did not receive oral motor treatment, 46% presented low or very low weight and 40% referred recurrent respiratory diseases. In the end, it was concluded that feeding skills improve significantly with oral motor treatment, regardless of the severity of gross motor involvement. Likewise, oral motor treatment was associated with a lower presence of respiratory diseases and nutritional compromise.

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A‐related pathologies

Pathogenic biallelic variants in POL3RA have been associated with different disorders characterized by progressive neurological deterioration. These include the 4H leukodystrophy syndrome (hypomyelination, hypogonadotropic hypogonadism, and hypodontia) and adolescent-onset progressive spastic ataxia, as well as Wiedemann-Rautenstrauch syndrome (WRS), a recognizable neonatal progeroid syndrome. The phenotypic differences between these disorders are thought to occur mainly due to different functional effects of underlying POLR3A variants. Here we present the detailed clinical course of a 37-year-old woman in whom we identified a homozygous synonymous POLR3A variant c.3336G>A resulting in leaky splicing r.[3336ins192, =, 3243_3336del94]. She presented at birth with intrauterine growth retardation, lipodystrophy, muscular hypotonia, and several WRS-like facial features, albeit without sparse hair and prominent scalp veins. She had no signs of developmental delay or intellectual disability. Over the years, above characteristic facial features, she showed severe postnatal growth retardation, global lipodystrophy, joint contractures, thoracic hypoplasia, scoliosis, anodontia, spastic quadriplegia, bilateral hearing loss, aphonia, hypogonadotropic hypogonadism, and cerebellar peduncles hyperintensities in brain imaging. These manifestations partially overlap the clinical features of the previously reported POLR3A-associated disorders, mostly mimicking the WRS. Thus, our study expands the POLR3A-mediated phenotypic spectrum and suggests existence of a phenotypic continuum underlying biallelic POLR3A variants.

Prevalence of bruxism in adults with cerebral palsy institutionalized in Lisbon

To determine the prevalence of bruxism in individuals with cerebral palsy (CP) and evaluating the various factors associated METHODS: One hundred and ten adults diagnosed with CP were selected from six institutions for people with special needs. Data were collected through oral examinations using the diagnostic criteria proposed by the American Academy of Sleep Medicine and the modified scale of Asworth RESULTS: Of the total sample, spastic tetraplegia was the most common type and half of the population presents severe intellectual disability. The prevalence of bruxism was 74,5%. Wear facets were observed in 67.9% of the sample, 59.1% of which were brilliant. There was a positive association between mixed bruxism (MB) and the spasticity classification. Through a logistic regression it was found that the risk of having MB and general bruxism (GB) is greater in individuals who have shiny wear facets. In the present study the high prevalence of GB indicates there is an urgent need for treatment options in people with CP. More studies are needed with standardized diagnostic protocols and representative samples to evaluate the factors that influence the presence of bruxism in this population and to establish an appropriate treatment planning.

Sleep disorders and associated factors in children with cerebral palsy

Background Sleep disorders are a condition affecting quality and quantity of sleep. Children with cerebral palsy (CP) have higher risk of sleep disorders than those with no chronic disease.&#x0D; Objective To determine the prevalence and factors associated with sleep disorders in children with CP.&#x0D; Methods We conducted an analytic, observational study with cross-sectional design in children aged 4-10 years with CP. Subjects were recruited consecutively; children with chronic diseases (cardiovascular, malignancy, chronic obstructive pulmonary disease, and diabetes mellitus) were excluded from the study. Primary data including sociodemographics, intensity of physiotherapy outside Sardjito General Hospital (SGH), sleep hygiene, and sleep disorders were collected from the Children’s Sleep Habit Questionnaire (CSHQ). Secondary data were acquired from medical records, such as type of CP, severity of motor function impairment, presence of epilepsy, intensity of physiotherapy performed at SGH, as well as anti-epileptic, anti-spastic, and sleep-affecting medicines.&#x0D; Results We found sleep disorders in 64 of 75 (85%) subjects, mostly bedtime resistance (66%). Spastic quadriplegia (OR=3.63; 95%CI 1.82 to15.94) and presence of epilepsy (OR=7.82; 95%CI 1.53 to 39.84) were significantly associated with sleep disorders in children with CP aged 4-10 years.&#x0D; Conclusion Sleep disorders are common in children with CP, with the majority experiencing bedtime resistance. Sleep disorders are more prevalent in subjects with spastic quadriplegia and epilepsy.

Liver, Renal, and Cardiovascular Failure After Unintentional Overdose of Tizanidine in a 2-Year-Old Child.

Tizanidine is a central alpha-2 adrenergic receptor agonist indicated for the treatment of spasticity in adults; however, its use in the pediatric population is considered off-label. In adults, the dose is gradually titrated until the desired reduction in muscle tone is achieved. Hypotension is a frequent adverse effect, but impaired liver function is not characteristic of alpha-2 adrenergic agonist overdose. We report a 2-year-old male affected with spastic quadriplegia (treated with clonazepam and tizanidine) and dysphagia (he was fed by nasogastric tube). Two days before admission caregivers ran out of clonazepam so they increased the tizanidine dose from 0.15 mg/kg/day to 1.6 mg/kg/day. Simultaneously his nasogastric tube fell out; therefore, he was unable to maintain proper oral nutrition and hydration. He presented to the emergency department hemodynamically unstable, with impaired consciousness and signs of severe dehydration. Blood tests revealed hepatic dysfunction without cholestasis and renal dysfunction. He was transferred to the pediatric intensive care unit. Treatment was mainly supportive, apart from tizanidine discontinuation. Metabolic and infectious diseases were ruled out so he was finally diagnosed as having liver, renal, and cardiovascular failure after tizanidine overdose, worsened by dehydration. His clinical status improved, and after 3 weeks he was discharged from the hospital, receiving clonidine instead of tizanidine to treat spasticity. Tizanidine overdose can result in serious complications that can be worsened because of patient comorbidities.

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

BackgroundAmyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis.MethodsWe conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population.ResultsAll 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity.ConclusionsThis case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

Effect of oral sensorimotor stimulation on oropharyngeal dysphagia in children with spastic cerebral palsy: a randomized controlled trial.

Children with cerebral palsy show various degrees of dysphagia causing late development of oral motor skills AIM: The aim of this study is to investigate effect of oral sensorimotor stimulation on oropharyngeal dysphagia in children with spastic quadriplegia. This was a double-masked, randomized controlled clinical trial. Outpatient Clinics of Faculty of Physical Therapy, Cairo University and Modern University of Technology and Information. A convenient sample of 71 children age ranged from 12 to 48 months diagnosed with spastic quadriplegia, were randomly assigned into two groups. Children in the control group received 90 minutes conventional physical therapy training five times/week for four successive months while those in the experimental group received 20 minutes of oral sensorimotor stimulation before the same program as in control group. Oral motor function, body weight, segmental trunk control and gross motor function were assessed at base-line and after completing treatment. Overall, 64 (32 in the experimental group, 32 in the control group) children completed treatment and data collection. The baseline assessment showed non-significant difference regarding all measured variables while with-in group comparison showed significant improvement in the two groups. The post-treatment comparisons revealed significant difference the oral motor function and physical growth in favor of the experimental group (P<0.05). Finally, there was non-significant difference regarding segmental trunk control and gross motor function (P>0.05). Oral sensorimotor stimulation has the capability to improve feeding in children with spastic cerebral palsy diagnosed with oropharyngeal dysphagia. OSMS has effect on some of the essential oral motor skills that contribute toward the improvement of feeding performance in children with spastic CP. The results of our study offer remarkable clinical importance for the children and their families.

Congenital cytomegalovirus infection presenting as cerebral palsy

A 9 month old boy presented with history of delayed attainment of milestones. He was born to a primigravida mother, with an uneventful perinatal period, but had a low birth weight (2.1 kg) for gestational age. There was no history of seizures, abnormal movements, loss of previously gained milestones or prior sibling deaths. On examination, he had severe microcephaly, failure to thrive and hepatosplenomegaly. Neurological examination revealed severe axial hypotonia and spastic quadriplegia with brisk deep tendon reflexes and intermittent scissoring of lower limbs. Fundus examination and hearing evaluation were normal. His current developmental age was 4 months and developmental quotient was 30.

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

Neuroradiologic Features Associated With Severe Restriction of Functional Mobility in Children With Cerebral Palsy in North India.

Few studies have focused on magnetic resonance imaging (MRI) brain findings associated with functional mobility in cerebral palsy. To determine association between MRI findings and Gross Motor Functional Classification System (GMFCS) levels in cerebral palsy. Prospective-observational study conducted in Pediatric Neurology Clinic at a public teaching hospital, Northern India. First 3 new cases of cerebral palsy were enrolled on particular neuro-clinic day per week for 1 year. Functional mobility was classified according to GMFCS. Association between MRI findings, cerebral palsy type, and GMFCS levels were evaluated using χ2 test. A total of 138 cases (mean age 2.71 [SD = 1.91] years; male [64.5%]) were enrolled. Reported types of cerebral palsy were as follows: spastic quadriplegia (47.8%), spastic diplegia (28.35%), spastic hemiplegia (11.6%), extrapyramidal (6.5%), and ataxic/hypotonic (5.8%). GMFCS were classified into level 1 (13%), level 2 (7.2%), level 3 (4.3%), level 4 (10.9%), and level 5 (64.5%). Spastic quadriplegia and extrapyramidal cerebral palsy were significantly associated with higher (severe) levels (IV and V), whereas spastic diplegia and hemiplegia were significantly associated with lower (mild) levels (I-III) of GMFCS. MRI features of periventricular white matter injury, deep gray matter injury, basal ganglia and thalamic changes, and superficial gray matter injury were significantly associated with severe levels of GMFCS (V and IV). MRI was normal in 8 children (5 = mild category, 3 = severe category). Severe cerebral palsy is most often associated with spastic quadriplegia, extrapyramidal cerebral palsy, superficial gray matter lesions, deep gray matter lesions, and periventricular white matter injury. This information is useful for anticipating and addressing the needs of children with cerebral palsy and for prognostication.