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Biomedical subjects

Philip K Capp

Publications and source records attributed to Philip K Capp.

3 recordsLinked to original sources

Inherited disorders of neurotransmitters in children and adults.

Inherited disorders of neurotransmitters are a group of neurometabolic syndromes attributable to a primary disturbance of neurotransmitter metabolism or transport. This is an enlarging group of recognized disorders requiring specialized diagnostic procedures for detection. This review considers clinical disorders of biopterin, catecholamines, serotonin, glycine, pyridoxine, and GABA metabolism. Newly described syndromes such as cerebral folate deficiency and pyridoxal-5-phosphate dependency are included. The disorders of the metabolic pathways of biopterin, catecholamines, and serotonin are linked due to their common synthetic components. Glycine encephalopathy represents an enlarging phenotype related to abnormalities of the glycine degradative cleavage system. Both pyridoxine and pyridoxal-5-phosphate dependency need to be considered in refractory neonatal seizures. The most common disorder of GABA metabolism is SSADH deficiency, which has a broad phenotype of mental retardation, epilepsy, ataxia, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB.

Adult↗

Pediatric sleep disorders.

Pediatric sleep disorders represent a heterogeneous collection of disturbances that require varied intervention strategies. The diagnosis of some sleep disorders (eg, OSAS, narcolepsy, PLMD) require PSG, whereas others can be diagnosed during an office visit with a thorough medical,psychiatric, and sleep history. Sleep disorders place children at risk for school failure, accidents, and social problems, and can place a significant burden on families and the parent-child relationship.

Child↗

Methylphenidate HCl: therapy for attention deficit hyperactivity disorder.

Methylphenidate is a first-line therapy for attention deficit hyperactivity disorder, the most prevalent neuropsychiatric disorder of childhood. The compound is a piperidine and the D-threo-isomer is considered the biologically active form. The compound is available in multiple short- and long-acting preparations, having different delivery systems leading to varying kinetics without clear superiority in efficacy or tolerability at the group level. Common adverse effects are insomnia, appetite disturbance, stomach ache, headache and dizziness. Its mechanism of action is linked to the monoamines dopamine and norepinephrine. The compound appears to predominantly increase the synaptic concentration of dopamine, presumably via inhibition of the dopamine transporter DAT1. There also appears to be effects on presynaptic vesicular trafficking and distribution of dopamine. Both immediate- and sustained-release preparations of methylphenidate have proven efficacy in children and adults with attention deficit hyperactivity disorder. Analysis of the National Institutes of Health-sponsored multimodal treatment study of attention deficit hyperactivity disorder supports a combined medication and behavioral therapy approach.

Animals↗