This article postulates that movement and action control are the underpinning of executive functioning. We selectively examine brain regions that have traditionally been almost exclusively understood as critical to the control and expression of movement-namely, the basal ganglia and the cerebellum. We first describe the relationship between movement and cognition. This is followed by a review o...

BACKGROUND PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis. METHODS Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France. RESULTS Thirty-eight infants with PWS were born in 201...

a clinical presentation of a metabolic disorder, often first seen in infants who present with poor feeding, vomiting, tachypnea, acidosis, hyperammonemia, ketosis, ketonuria, irritability, and convulsions or hypotonia and lethargy, findings that are otherwise suggestive of neonatal sepsis diseases with oa isovaleric and propionic acidemias, maple syrup urine disease, medium chain acyl dehydroge...

Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...

Hypotonia is characterized by reduced resistance to passive range of motion in joints versus weakness, which is a reduction in the maximum muscle power that can be generated. (Dubowitz, 1985; Crawford, 1992; Martin, 2005) Based on strong research evidence, central hypotonia accounts for 60% to 80% of cases of hypotonia, whereas peripheral hypotonia is the cause in about 15% to 30% of cases. Dis...

Case presentation: Girl, 5 years old, she had not gestational and neonatal complications her parents is consanguineous. She neuropsychomotor developmental delay (NDD) dysphagia for solids at 6 months. At 2 cognitive impairment, motor with axial ataxia, appendicular hypotonia dysmetria. Her symptoms progressively worsening associated pyramidal signs. Cerebellar atrophy increased arachnoid space ...

BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation....

Joubert syndrome (JS) is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The 11 cases were searched according to their clinic, radiologic, and mutation analysis findings, according to which they were diagnosed as JS. Physical, neurological and fundus examinations were perf...

Icterus neonatorum, or neonatal jaundice, is defined as a total serum bilirubin level above 5mg/dl. Acute bilirubin encephalopathy and kernicterus are known to be the two major complications associated with it, resulting in neurotoxic effects, including sensorineural hearing loss, hypotonia, delayed motor skills and intellectual deficits. We report two similar cases of neonatal jaundice requiri...