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Postnatal Sequelae of Fetal Growth Retardation
Published in Asim Kurjak, John M. Beazley, Fetal Growth Retardation: Diagnosis and Treatment, 2020
Studies comprising large groups show that cerebral palsy is not more frequent in term SFD infants than in term AFD ones. However, the former exhibit spastic diplegia more frequently.58,77,78,
Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Dominantly inherited GTPCH deficiency, Segawa disease, is also known as DOPA-responsive dystonia. Penetrance is reduced, with the frequency of symptoms being 3-fold to 4-fold higher in females as compared to males [38]. The disease manifests classically with difficulty walking as a result of postural dystonia of one leg, usually within the first decade of life, with the mean age of onset of symptoms being about seven years (range 16 months to 13 years) [39]. Within the next 10–15 years dystonia progresses to all limbs, followed by action dystonia and hand tremor, during which time cognition remains intact. Occasionally, in older children, the first signs may start in the arms or be torticollis or writer's cramp (focal dystonia). The dystonia is frequently asymmetrical. Diurnal fluctuation is normally present, with symptoms improving after nighttime sleep or bed rest. The variation in presenting symptoms is, however, large and may include minor muscle cramps, an early nonprogressive course, delayed attainment of motor milestones, or spastic diplegia [38]. Twenty percent of patients also have hyperreflexia and apparent extensor plantar responses (so-called “striatal toes”) mimicking spasticity. There may be parkinsonian features involving reduced facial expression and slowed movements of fingers [40]. Abnormal sleep includes sleeping and nightmares.
Infectious Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Vas Novelli, Delane Shingadia, Huda Al-Ansari
A common early sign is the development of spastic diplegia. There may also be failure to achieve developmental milestones, and in the latter part of the disease, developmental regression and seizures may occur. Opportunistic infections of the CNS, common in adults, need to be excluded. CT scan findings may show cerebral atrophy (Fig. 3.29) or basal ganglia enhancement/calcification. Treatment with HAART may lead to some improvement, with reversal of the cognitive and neurological deficits. Without any treatment, the prognosis is bleak (median survival is 11 months).
Goal-oriented locomotion in children with spastic diplegia: Anticipatory orienting strategies and trajectory formation
Published in Developmental Neurorehabilitation, 2022
Alexander Castilla, Alain Berthoz, Giovanni Cioni, Vittorio Belmonti
Cerebral Palsy (CP) is a complex neurodevelopmental condition due to early, non-progressive brain injury, encompassing postural and motor disorders as well as perceptual, cognitive and emotional difficulties.6 In this study, the spastic diplegic form of CP is investigated, because it is frequent (29% of all CP’s,7) characterized by invalidating locomotor disorders and by a recurrent pattern of brain damage consisting of periventricular white-matter lesions.8 Studies of locomotion in CP are almost entirely confined to gait. Several classifications of abnormal gait patterns in spastic diplegia are based on lower-limb joint angles on the sagittal plane while the subjects are walking in a straight line.9,10 The Gross Motor Function Classification System (GMFCS) grades severity into 5 levels according to locomotor ability.11 Ferrari et al.12 identified 4 forms of spastic diplegia and described the so-called perceptual disorders, i.e., disorders of the sense of motion and balance.13 No CP classification has addressed navigation, so far. Visual-spatial disorders are prominent in spastic CP,14 but they are assessed only by means of table-top tests that exclude locomotion. Only recently, a novel navigation paradigm, the Magic Carpet, has been applied to CP, showing specific deficits related to the anatomy of brain lesions.15 It is therefore likely that children with CP experiencenot only gait issues, but also issues related to navigation, which should affect goal-oriented locomotion as well.
Quantification of the effects of robotic-assisted gait training on upper and lower body strategy during gait in diplegic children with Cerebral Palsy using summary parameters
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2022
Luigi Piccinini, Veronica Cimolin, Fabio Storm, Gabriella Di Girolamo, Emilia Biffi, Manuela Galli, Claudia Condoluci
For the second aim of the research, 35 children with diplegia were selected (age: 5-15 years at the time of the first evaluation) at IRCCS ‘Eugenio Medea’ Hospital. The inclusion criteria were: (1) a diagnosis of spastic bilateral CP with a Gross Motor Function Classification System (GMFCS) level II to III, (2) a femur length of at least 21 cm (paediatric Lokomat), (3) ability to communicate discomfort, fear or pain, (3) understanding simple instructions (total intelligence quotient > 60), (4) ability to stand and walk without or with assistance, and (5) performing Lokomat training for the first time. The exclusion criteria were the presence of any contraindications to Lokomat training, botulinum toxin injections six months prior to the assessment, intrathecal baclofen pump or a surgical intervention during the last 12 months. During the study period all included participants received Lokomat training, combined with additional physical therapy, aimed at improving motor control, increasing stability in the sitting and upright positions and developing walking skills.
Kinematics associated with treadmill walking in Rett syndrome
Published in Disability and Rehabilitation, 2021
Charles S. Layne, David R. Young, Beom-Chan Lee, Daniel G. Glaze, Aloysia Schwabe, Bernhard Suter
Another notable feature of our participants’ kinematics is the very small range of knee joint motion, despite some minimal but statistically significant speed-related increases. Consistent with our results, previous investigations have also reported minimal changes in knee motion associated with small increases in walking speed [39]. The median values ranged from 9.4 at 0.2 m/s to 10.3 at 0.5 m/s. This minimal knee ROM can be characterized as ‘stiff-knee gait’ (SKG) and contributes to the slow speeds at which our participants were able to walk. Typical individuals, when asked to walk at 0.3 m/s on a treadmill (the same speed that our participants walked at), had an average knee ROM of 46.1° and a hip ROM of 29.6° [39]. Carriero et al. [34] published data from a sample of children with spastic diplegia CP, aged 9.5 years. They reported a mean range of 41.3°, while an aged match sample of typically developing children displayed a ROM of 65.4°. Individuals post-stroke also exhibit significantly reduced knee ROM during gait [40,41]. For example, the post-stroke participants in Chen et al.’s [40] investigation displayed peak knee flexion of 37.8° with their paretic limb, while typical participants had average peak knee flexion values of 61.9°. Thus, even patient populations that have been characterized as displaying SKG had significantly greater knee motion than our participants. Concerning hip ROM in the sagittal plane, Carriero’s et al. study [34] reported a range of 47.1° for children with CP and 49.9° for typically developing children. Again, these values are significantly greater than were observed in the current study.