When affected individuals display aggressive or destructive behavior that could harm themselves or others, the antipsychotic medication risperidone may eventually be prescribed. It is recommended that spinal development be monitored regularly by X-ray and physical exams. Echocardiograms are recommended every 5–10 years to assess cardiac function and development. Families are encouraged to receive genetic counseling in order to understand and prepare to provide care for children affected by Coffin–Lowry syndrome. Prognosis
Lifespan may be significantly shortened in males with Coffin–Lowry syndrome. Patients may survive into their late twenties, but generally die young due to cardiac, respiratory, and post-operative complications. The progression of reduced cardiac functioning over time may necessitate surgical procedures to counteract mitral valve dysfunction, congenital heart disease, patent ductus arteriosus, and ventricular hypertrophy. Kyphoscoliosis may worsen over time and contribute to these pathologies. Epidemiology
The prevalence of CLS is uncertain due to the rarity of the disease, but CLS is estimated to affect between 1 in 50,000 and 1 in 100,000 people. Prenatal testing is available to test for CLS of an offspring if a family member has been diagnosed with CLS. History
Coffin–Lowry was first described by Grange S. Coffin (b. 1923) in 1966 and independently by Robert Brian Lowry (b. 1932) in 1971. Dr. Temtamy showed that the cases represented a single syndrome in 1975.In 1972, Peter G. Procopis and B. Turner published a case study on a family of four brothers with Coffin-Lowry Syndrome, with female relatives, specifically sisters, only possessing some mild deformities and abnormalities.
Pharmacology
Mechanism of action
Like other members of the anthranilic acid derivatives (or fenamate) class of NSAIDs, it inhibits both isoforms of the enzyme cyclooxygenase (COX-1 and COX-2). This prevents formation of prostaglandins, which play a role in pain sensitivity, inflammation and fever, but also in hemostasis, kidney function, sustaining of pregnancy, and protection of the gastric mucosa. Pharmacokinetics
Mefenamic acid is rapidly absorbed from the gut and reaches highest concentrations in the blood plasma after one to four hours. When in the bloodstream, over 90% of the substance are bound to plasma proteins. It probably crosses the placenta, and is found in the breast milk in small amounts.It is metabolized by the liver enzyme CYP2C9 to the only weakly active 3-hydroxymethylmefenamic acid. 3-carboxymefenamic acid has also been identified as a metabolite, as well as carboxy glucuronides of all three substances. Mefenamic acid and its metabolites are excreted via the urine (52–67%) and the faeces (20–25%, or less than 20% following another source). The parent substance has a biological half-life of two hours; the half-life of its metabolites may be longer. History
Scientists led by Claude Winder from Parke-Davis invented mefenamic acid in 1961, along with fellow members of the class of anthranilic acid derivatives, flufenamic acid in 1963 and meclofenamate sodium in 1964.: 718   U.S. Patent 3,138,636 on the drug was issued in 1964.: 918–919 It was approved in the UK in 1963 as Ponstan, in West Germany in 1964 as Ponalar and in France as Ponstyl, and the US in 1967 as Ponstel.