Abstract:Current societal and technological changes have added to the ethical issues faced by people with cerebral palsy. These include new representations of disability, and the current International Classification of Functioning, Disability, and Health, changes in legislation and international conventions, as well as applications of possibilities offered by robotics, brain–computer interface devices, muscles and brain stimulation techniques, wearable sensors, artificial intelligence, genetics, and more for diagnostic… Show more
“…Cerebral palsy is a nonprogressive disorder which occurs in the developing fetal or infant brain. Motor disorders are the most common manifestations but can also be accompanied by disturbances in sensation, cognition, and communication [ 16 ]. While the AKT3 mutation does not cause cerebral palsy, it is relevant in this case because cerebral palsy increased the risk of epilepsy [ 16 ].…”
Section: Discussionmentioning
confidence: 99%
“…Motor disorders are the most common manifestations but can also be accompanied by disturbances in sensation, cognition, and communication [ 16 ]. While the AKT3 mutation does not cause cerebral palsy, it is relevant in this case because cerebral palsy increased the risk of epilepsy [ 16 ]. It is important in this case for the prognosis of the seizures in this patient.…”
Megacephaly polymicrogyria, polydactyly, hydrocephalus (MPPH) is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes. Although the prevalence of the syndrome is very low, there is a significant clinical and radiological variation in the syndrome. We present a case with MPPH admitted to the hospital due to an increase in seizure frequency. The patient had a history of cerebral palsy, global developmental delay, spasticity, and hypoglycemic episodes. MRI findings revealed ventriculomegaly, polymicrogyria, abnormal encephalon, and pachygyria. The addition of clobazam and alprazolam diminished the seizures' frequency and the patient's spasticity, respectively. To highlight the clinical and radiological variation of the syndrome, we review cases of MPPH with clinical and radiological variants. Pachygyria and cerebral palsy are new associations not previously described before in MPPH. Pachygyria and cerebral palsy could be worsening the seizures and the global delay in this patient. Hypoglycemic episodes are probably related to the AKT3 gene, promoting more glucose consumption. Spasticity is most probably related to an upper motor sign due to the patient's cerebral palsy. This case highlights the clinical and radiological variation of the syndrome. More cases of MPPH need to be described to consolidate the knowledge and have a better understanding of the clinical and radiological variation of the syndrome.
“…Cerebral palsy is a nonprogressive disorder which occurs in the developing fetal or infant brain. Motor disorders are the most common manifestations but can also be accompanied by disturbances in sensation, cognition, and communication [ 16 ]. While the AKT3 mutation does not cause cerebral palsy, it is relevant in this case because cerebral palsy increased the risk of epilepsy [ 16 ].…”
Section: Discussionmentioning
confidence: 99%
“…Motor disorders are the most common manifestations but can also be accompanied by disturbances in sensation, cognition, and communication [ 16 ]. While the AKT3 mutation does not cause cerebral palsy, it is relevant in this case because cerebral palsy increased the risk of epilepsy [ 16 ]. It is important in this case for the prognosis of the seizures in this patient.…”
Megacephaly polymicrogyria, polydactyly, hydrocephalus (MPPH) is an extremely rare condition caused by a defect in the AKT3, CCND2, or PIKR2 genes. Although the prevalence of the syndrome is very low, there is a significant clinical and radiological variation in the syndrome. We present a case with MPPH admitted to the hospital due to an increase in seizure frequency. The patient had a history of cerebral palsy, global developmental delay, spasticity, and hypoglycemic episodes. MRI findings revealed ventriculomegaly, polymicrogyria, abnormal encephalon, and pachygyria. The addition of clobazam and alprazolam diminished the seizures' frequency and the patient's spasticity, respectively. To highlight the clinical and radiological variation of the syndrome, we review cases of MPPH with clinical and radiological variants. Pachygyria and cerebral palsy are new associations not previously described before in MPPH. Pachygyria and cerebral palsy could be worsening the seizures and the global delay in this patient. Hypoglycemic episodes are probably related to the AKT3 gene, promoting more glucose consumption. Spasticity is most probably related to an upper motor sign due to the patient's cerebral palsy. This case highlights the clinical and radiological variation of the syndrome. More cases of MPPH need to be described to consolidate the knowledge and have a better understanding of the clinical and radiological variation of the syndrome.
“…Given the need to balance the access to or imprecision of certain elements of early detection, the complexities of multiple healthcare systems and the lack of direct and specific guidance from governing bodies in clinical and academic medicine, it falls to clinicians, implementers and researchers to work together to find common ground to serve the best interests of patients. A recent article on ethical issues in CP [8] inspired a framework that our Implementa-tion Network used to find a solution to the conundrum of early diagnosis during early CP detection.…”
Section: Consensus Statement From the Implementation Network For Earl...mentioning
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