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What are the best treatments for Pitt-Hopkins Syndrome?
See the best treatments for Pitt-Hopkins Syndrome here
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TREATMENT OF GASTROESOPHAGEAL REFLUX (GER):
Gastroesophageal reflux (GER), drugs most commonly used are inhibitors of proton pump (PPIS) such as omeprazole or lansoprazole. The IBP would be listed in:
cases of esophagitis(inflammation of esophagus) reflux.
cases of moderate symptoms-severe.
cases of asthma secondary to the reflux,
the next step would be surgery. It consists of a technique called Nissen fundoplication, in which is performed a retreat from the upper part of the stomach on the distal part of the esophagus, so as to strengthen the function of the lower esophageal sphincter. This technique achieves an improvement of symptoms in 60-90% of patients, but is not without its complications. For this reason, the indication has to be performed by specialists and with a complete study prior to the patient.
In any case, the management of reflux disease must be individualized, according to the characteristics of each patient, and managed by a Gastroenterologist expert.
TREATMENT OF EPILEPSY
In the Syndrome, Pitt Hopkins, epilepsy can be give up to 50% of the cases. The type of epilepsy can be very variable, ranging from generalized tonic-clonic seizures, partial seizures, absences, or more complex cases such as the syndrome of West. Even there are patients who require more than one antiepileptic drug to control seizures.
The drugs most commonly used are valproic acid (Depakine©), levetiracetam (Keppra©), carbamazepine (Tegretol©), among others.
TREATMENT OF CONSTIPATION
The chronic constipation is a very common condition in these patients, and in many cases it can be severe.
For management we have various options:
Fiber.
Laxatives: among them we can find:
Polyethylene glycol (PEG) is a laxative, osmotic, that is to say, that manages to increase the amount of water in the bowel and so soften the stools. It is one of the most studied, and most used in these patients. Has few adverse effects and is well tolerated, better than other laxatives.
Laxatives lubricants-emollients: paraffin oil. Act by lubricating the feces and avoiding to lose water. Have a greater amount of side effects and there is a risk of aspiration.
TREATMENT OF HYPERVENTILATION-APNEA
Episodes of hyperventilation or apnea occur in 55-60% of patients and in the majority of cases in vigil.
Initially treatment was started with anti-epileptics. But in recent years, it has been shown in several studies that daily treatment with acetazolamide reduces the frequency and duration of episodes and improves oxygen saturation. The mechanism of action of this drug is to produce a metabolic acidosis, and this acidosis stimulates respiration at the central level.
Gastroesophageal reflux (GER), drugs most commonly used are inhibitors of proton pump (PPIS) such as omeprazole or lansoprazole. The IBP would be listed in:
cases of esophagitis(inflammation of esophagus) reflux.
cases of moderate symptoms-severe.
cases of asthma secondary to the reflux,
the next step would be surgery. It consists of a technique called Nissen fundoplication, in which is performed a retreat from the upper part of the stomach on the distal part of the esophagus, so as to strengthen the function of the lower esophageal sphincter. This technique achieves an improvement of symptoms in 60-90% of patients, but is not without its complications. For this reason, the indication has to be performed by specialists and with a complete study prior to the patient.
In any case, the management of reflux disease must be individualized, according to the characteristics of each patient, and managed by a Gastroenterologist expert.
TREATMENT OF EPILEPSY
In the Syndrome, Pitt Hopkins, epilepsy can be give up to 50% of the cases. The type of epilepsy can be very variable, ranging from generalized tonic-clonic seizures, partial seizures, absences, or more complex cases such as the syndrome of West. Even there are patients who require more than one antiepileptic drug to control seizures.
The drugs most commonly used are valproic acid (Depakine©), levetiracetam (Keppra©), carbamazepine (Tegretol©), among others.
TREATMENT OF CONSTIPATION
The chronic constipation is a very common condition in these patients, and in many cases it can be severe.
For management we have various options:
Fiber.
Laxatives: among them we can find:
Polyethylene glycol (PEG) is a laxative, osmotic, that is to say, that manages to increase the amount of water in the bowel and so soften the stools. It is one of the most studied, and most used in these patients. Has few adverse effects and is well tolerated, better than other laxatives.
Laxatives lubricants-emollients: paraffin oil. Act by lubricating the feces and avoiding to lose water. Have a greater amount of side effects and there is a risk of aspiration.
TREATMENT OF HYPERVENTILATION-APNEA
Episodes of hyperventilation or apnea occur in 55-60% of patients and in the majority of cases in vigil.
Initially treatment was started with anti-epileptics. But in recent years, it has been shown in several studies that daily treatment with acetazolamide reduces the frequency and duration of episodes and improves oxygen saturation. The mechanism of action of this drug is to produce a metabolic acidosis, and this acidosis stimulates respiration at the central level.
Posted Sep 18, 2017 by Chiqui 2010
