CDKL5

Mi a cdkl5?

A cdkl5, egy ritka genetikai betegség, amelyet 2004-ben azonosítottak és írtak le először.A mutáció a cdkl5 gént érinti, amely az x kromoszómán található, ezért elsősorban lányok fejlődését befolyásolják, bár kisebb számban fiúk is érintettek. Első jellemző tünete, hogy a korai életszakaszban, a születést követő első pár hétben illetve hónapban megjelenik az epilepszia, majd ezt súlyos idegrendszeri fejlődési elmaradás, késés követi. A tünetegyüttes nagyon hasonlít egy másik genetikai eredetű betegségre, a rett szindrómára, ezért nehéz a pontos diagnózist felállítani, de mivel már megfelelő vizsgálatokkal lehetőség nyílt a pontos kimutatásra, 2012-ben külön vált a 2 "betegség".
Családi halmozódás nem ismert, de további családtervezés esetén ajánlott genetikussal konzultálni. (Tapasztalatom: úgyis azt mondják felesleges elvégezni a magzati vizsgálatot, hiszen az orvosi irodalom nem ismer családi halmozódást, illetve a vizsgálat gyorsasága - lassúsága - miatt teljesen felesleges, határos időn belül úgysem készül el az eredmény :(
Az érintett családoknak konzultálni kell neurológus szakorvossal, és gyermekorvossal, akik koordinálják a gyermek további vizsgálatait, és fejlesztési lehetőségeket ajánlanak, illetve a megfelelő helyre továbbítják őket. Sajnos kis hazánkban ez még nem igazán kiforrott, működő dolog, de bízunk abban, hogy ez a közeljövőben változik.

Minden gyermeknek, aki érintett a cdkl5 elváltozásban, fontos a fizioterápia, zeneterápia, hippoterápia (lovasterápia), beszédterápia, Dévény módszer, ki lehet próbálni különböző masszázsokat - trager, korokan.
Fontos, hogy amennyiben az általános egészsége (testi, lelki) az érintett gyermeknek lehetővé teszi, családban, közösségben nevelkedjen. Ha nem is integrált, de speciális óvodába, iskolába, szociális nappali intézménybe járjon.


Klinikai tünetek:

Alvászavar
Apraxia - akaratlagos mozgás, amely nem magyarázható a mozgásképesség zavarával. (Idegrendszeri dolog)
Aspirációs tüdőgyulladás
Belek túlmozgásából vagy épp nem mozgásából adódó bél illetve gyomor csavarodás
Csontritkulás
Epilepszia
Étkezési, nyelési problémák
Fogcsikorgatás
Gerincferdülés (scoliosis, kifózis, lordózis)
Gyakori böfögési inger
Hangulatingadozás/akaratlan viselkedés
Haspuffadás
Hideg végtagok
Kortikális vakság
Légzési szabálytalanságok
Megváltozott fájdalomérzet
Mozgásproblémák
Reflux
Székrekedés
Szívproblémák
Sztereotip kézmozgások



Sajnos még csak angolul :)




Tartalom: What is CDKL5? What causes CDKL5? Is this genetic mutation hereditary? How often does CDKL5 occur? What are the Signs and Symptoms of CDKL5 Disorder? Do all children with CDKL5 have seizures? What types of seizures are common with CDKL5 disorders? Does CDKL5 Disorders affect only girls? CDKL5 seems very similar to Rett’s Syndrome. What is the difference? How is CDKL5 related to other disorders? Will my child outgrow her seizures? What treatments have been tried for the seizures? What is life expectancy? How is my child diagnosed? Where can testing for CDKL5 be done? Is research being done to find a cure for CDKL5? What are some common therapies? My child often goes for 24 hours or more without sleeping. Is this a common trait? How do I connect with other parents of children with CDKL5? Where can I go for more information? How can I get involved? What is CDKL5? CDKL5 is a rare X‐linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro‐developmental impairment. CDKL5 stands for cyclin‐dependent kinase‐like 5, and is located on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The CDKL5 gene was previously called STK9. The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein. Most of the children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined to a wheelchair , dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties (please refer to the FAQ regarding signs and symptoms of CDKL5). It is important to note that we don’t know the full spectrum of CDKL5 disorders at this time. It is likely that there are many people affected by CDKL5 who have mild symptoms and no seizures. With continued research and awareness of CDKL5, we hope to build a more comprehensive understanding of the spectrum of this disorder. What causes CDKL5? We do not know. There is currently a large database that is collecting a variety of information on the children and their families affected by CDKL5, and so far researchers have not found any specific factors that lead to this genetic mutation. As more people are diagnosed, and as more studies are done to look at the natural history of CDKL5, we may someday have a better answer. Is this genetic mutation hereditary? It appears that most of the mutations are “de novo,” meaning that they occur spontaneously, and are not passed down through families. However, there is one known family in which multiple siblings were affected with the exact mutation, but neither the mother nor father are considered carriers. It is best to consult a geneticist to discuss your individual risk for passing down this genetic mutation. How often does CDKL5 occur? The incidence of a CDKL5 mutation in the population is unknown at this time. There are more than 100 cases of CDKL5 mutations that have been reported in the medical and scientific literature. However, we know that there are likely more than 600 documented cases worldwide, and that number is growing rapidly. More and more children and adults are being tested and diagnosed, as doctors and geneticists become more familiar with CDKL5. What are the Signs and Symptoms of CDKL5 Disorder? Not everyone will have all the signs/symptoms listed here, and some may have other symptoms not mentioned: Epileptic seizures starting in the first five months of life. Infantile spasms (in about 50%) Many different types of epilepsy usually including myoclonic jerks A small head (microcephaly) in about 50% Hand wringing movements or mouthing of the hands Marked developmental delay Limited or absent speech Hypersensitivity to touch, for example dislike of hair brushing Lack of eye contact or poor eye contact Gastro‐esophageal reflux Constipation Small, cold feet Breathing irregularities such as hyperventilation Grinding of the teeth Episodes of laughing or crying for no reason Low/Poor muscle tone Very limited hand skills Some autistic‐like tendencies Scoliosis Cortical Visual Impairment (CVI), aka “cortical blindness” Apraxia Eating/drinking challenges Interruptive sleep Characteristics such as a sideways glance, and habit of crossing legs Do all children with CDKL5 have seizures? The overwhelming majority of people diagnosed with CDKL5 do have seizures. However, we know of one person who has never had a seizure in her life. It is possible, even probable, that there are other children out there with CDKL5 who do not have seizures. As more research is done, and more children diagnosed, we will have a better understanding of the full spectrum of how CDKL5 affects the body. Back to Top What types of seizures are common with CDKL5 disorders? Individuals with CDKL5 have a wide variety of seizures. Sometimes they can have several different kinds of seizures all in the same day. Others may experience only one type of seizure at a time, and then as they grow, the seizures type may change. Many children have seizures at night, and in their sleep, and many experience acute sleep startles (sometimes identified as actual seizures on EEG). Sometimes, it may be difficult to understand what the seizure terminology means. Doctors have described more than 30 different types of seizures, and they are divided into two major categories -- focal seizures and generalized seizures. However, there are many different types of seizures in each of these categories. Not all seizures can be easily defined as either focal or generalized. Some people have seizures that begin as focal seizures but then spread to the entire brain. Other people may have both types of seizures but with no clear pattern. Click here for a more detailed description of focal and generalized seizures Back to Top Does CDKL5 Disorders affect only girls? While it's true that the majority of diagnosed children affected by CDKL5 are females, there are several documented cases in males. Since there is still so much to learn about the spectrum of CDKL5, the exact percentage of affected girls and boys is unknown. Back to Top CDKL5 seems very similar to Rett’s Syndrome. What is the difference? Mutations in the CDKL5 gene have been identified in girls diagnosed with a variant form of Rett syndrome (RTT). This form of the disorder, often severe, includes many of the features of classic Rett syndrome (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements), but also causes recurrent seizures beginning in infancy. At this time, CDKL5 appears to be distinct from, but closely related to, Rett Syndrome. There is still a great deal of research that needs to be done to understand the connection between CDKL5 and MeCP2. Back to Top How is CDKL5 related to other disorders? CDKL5 presents as a broad constellation of symptoms, with features that closely resemble other established disorders, such as Rett Syndrome (RTT), Infantile Spasms (ISSX), West Syndrome, Lennox‐Gastaut (LGS), Early onset Epilepsy of Infancy, and Autism. Click here to learn more about each of these disorders and their relationship to CDKL5 Back to Top Will my child outgrow her seizures? In general, the seizures associated with CDKL5 are difficult to treat, but there are several new anti-seizures medications that are being tried in these children. The families of children with CDKL5 have reported periods of time that their kids have been seizure‐free, a so-called “honeymoon period” (lasting anywhere from a few weeks to a few years), after starting a new medication, but often the seizures return and may take on a different form. Back to Top What treatments have been tried for the seizures? A wide variety of anti‐seizure therapies have been tried by many of our children, with varying degrees of success. They include: anti‐epileptic drugs Ketogenic diet/modified Atkins diet. Vagal nerve stimulator (VNS) Neurosurgery, such as corpus callostomy Various dietary changes/modifications Back to Top What is life expectancy? At this time, we do not know. Since CDKL5 was discovered only in 2004, we do not have enough data to answer this. What we do know, however, is that the oldest people described in medical literature with CDKL5 are 41 years old. There are many others that we know of who are in their mid 20’s, and many in their teens. Most of those newly diagnosed are young children and infants/toddlers. Back to Top How is my child diagnosed? Diagnosis is initially suspected based on symptoms, history and physical exam. Your child’s doctor must order the genetic test. Most children will already be under the care of a neurologist, geneticist, or other specialist. The test is a simple blood test that is sent to a special laboratory where the genetic sequencing is performed. The result is usually reported in approximately 4 to 6 weeks from the time of the blood draw. Back to Top Where can testing for CDKL5 be done? The blood is drawn at your child’s doctor’s office, and then sent to a special laboratory that performs the genetic test. The following PDF contains a list of some of the more common labs that perform this test. Your doctor will need to contact one of the labs, and get the necessary information on how to send the blood sample. Click here for a list of testing labs. Back to Top Is research being done to find a cure for CDKL5? Yes! Research projects, to date, have begun to look at the natural history of CDKL5 and physical characteristics of those affected. Research projects on the horizon are to develop a mouse model of CDKL5, which will help in identifying the CDKL5 protein and its function and interactions with other brain proteins. Once these goals are accomplished, then work can begin on finding a cure. Back to Top What are some common therapies? There are several therapies out there that have helped many children with CDKL5 make strides. Most success has come from early intervention, but it is never too late to try new therapies. Most of the children receive physical, occupational, and speech therapies. There are also many places across the country that specialize in intensive forms of these therapies. Aqua therapy, hippotherapy, and music are also common therapies for our children. Back to Top My child often goes for 24 hours or more without sleeping. Is this a common trait? Unfortunately, many parents of CDKL5 children have experienced this same thing. They have described nights where their child has "all night parties" in their room. Typically, the child is awake all night, but content and able to entertain themselves throughout the night. Regrettably, they are usually very tired within the next day or two. It appears that some of the children outgrow this phase. In the meantime, some parents have tried natural sleep aids such as melatonin. It is important to talk with your child’s doctor before starting any kind of sleep aid, as there may be drug interactions with your child’s seizure medications.