Doctor insights on:
Joubert Syndrome In Children
Is there a treatment for joubert syndrome. ..Can some provide more information on this. My siters son is affected with this syndrome.
Joubert syndrome vary widely. Supportive treatments must be tailored to your nephew's medical, developmental & educational needs. World-wide support & information is available from the
joubert syndrome foundation & related cerebellar disorders
414 hungerford drive
rockville, md 20850
email: [email protected] Org
http://www. Jsfrcd. Org. ...Read more
Joubert syndrome is a rare genetic condition that affects normal development of a growing fetus, most notably the cerebellum, a portion of the brain that controls balance, posture and motor learning. Infants with this disorder often have other other abnormalities associated with various organs such as the eyes, liver, ...Read more
For an assessment:
Of the child's developmental needs & toilet-training readiness, if < 3 yrs. Old, call Pam Barton,
Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. Old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106.
At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more
Many issues: This is a descriptive term indicating an infant or child who fails to meet the parameters for age and size and weight and in fact is falling down. This is an index of problems that need explanation. Categories: child abuse, malabsorption, severe infection, chronic illness, cancer, blood dyscrasias, inherited issues. Your pediatrician should be consulted immediately to sort this out. ...Read more
DS Phenotype: Flattened face, upward-slanting eyes, skin folds at inner corners of eyes, transverse palmar crease, & more. Many have congenital anomalies of the heart, intestine, skeletal system & other organs, along with hearing loss, vision problems & certain blood & neurological disorders. Intellectual Disability is usually mild-moderate. Guidelines for medical & developmental care are well-established. ...Read more
Yes.: :simply discuss this issue with your ob/gyn specialists to allay your concerns! ...Read more
No: As a phenomenologically defined entity, and considering that no reliable universal genetic marker was identified, it is impossible to predict with any level of certainty as of now. What is possible though is the diagnostic evaluation of a kid already exhibiting behaviors. ...Read more
ACOG charts show the: Risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. The risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery, the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more
No good data: This is not quite rare, but also not common. It is more often reported in children but can occur at any age. It is not a mental illness, but a physical perceptual distortion and is usually not part of a dangerous condition. It may be associated w/ migraines or tle and a neurologist might help. Try not to worry about 'craziness' - it is not that. Wish I could offer #s, but I can't. ...Read more
Very rare: This syndrome, where objects or the person's own body appear larger or smaller than normal, is very rare. Some sources say only about 300 adults & children in the us have this. Another source said 9% of teens had transient experiences of micropsia. It can be a migraine equivalent, & can also appear in conditions like seizures, CNS infections, brain tumors, drug use, macular degeneration, etc. ...Read more
Infertility: It may be primary or secondary infertiliy ...Read more
Tachybrady syndrome: TachyBrady Syndrome can occur in young children albeit rare. Infants may present with poor feeding or easy fatigability, which may also be evident in toddlers and older children. Laboratory studies include electrolytes, thyroid studies, echocardiogram, holter monitoring in older children, EP studies. Patients with symptoms require pacemakers and avoidance of medications that can exacerbate the prob. ...Read more
Doubt it would Hapn: While females with ds are capable of reproduction (with difficult pregnancies) males with few exceptions are not. For a male to be capable, I would expect him to be a partially affected mosaic ds & fertility would depend on the tissues of his body that has ds info. Having family support thru their lives is a great asset to anyone with ds or any impairment. ...Read more
I need statistics on aspergers syndrome. How many people have it (children, young adults, adults).?
Not Well Established: The prevalence of Asperger syndrome (as) is not well established. Experts estimate that as many as 1 in 88 children age 8 will have an autism spectrum disorder. No studies have yet been conducted to determine the incidence of Asperger syndrome in adult populations, but studies of children with the disorder suggest that their problems with socialization and communication continue into adulthood. ...Read more
I am 28 and have foetal alcohol syndrome, I was just wondering if it could be inherited by my 3 children?
FAS: Fetal alcohol syndrome is a label applied to infants where alcohol exposure during pregnancy created toxic effects on otherwise normal tissues. The features range from altered facial appearance & heart defects to injury to brain cells. Add or learning problems is common. This is not genetic & no mom passes it to her kids unless she ingests alcohol during pregnancy & replicates the injuries. ...Read more
Hello. I was wondering how likely it is for a male Schmidt's syndrome patient to pass on the disease to his children. Thank you.
Risk is there: The genetic risk is there but it doesn't mean all of them will get it. It just means they have a higher chance than the general population to develop the disease. The best thing is to go see the endocrinologist or the geneticist to determine their individual risks. There are test that can be done to determine if they have the antibody and the HLA type ...Read more
See an expert!:
Most children with asperger's present a group of specific signs: having repetitive and unusual behaviors; having ritualistic behaviors and pre-occupations (obsessions) with certain topics; difficulties "reading" social cues and difficulties empathizing (sensitivity to other's feelings); in general, difficulties relating to others.
Please, seek a specialist to diagnose this condition properly! ...Read more
This is a complicated condition and many children will have developmental/intellectual delays. Best if you make an appointment with a Genetic Specialist who can guide you through the diagnosis and possible outcomes. Here's an article that you may find helpful.
http://ghr. Nlm. Nih. Gov/condition/jacobsen-syndrome ...Read more
Inherited or steroid: The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast milk jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). If inherited it is a recessive gene. ...Read more
Not enough info:
Unfortunately you have not given enough information to answer your question. I would discuss this with your pediatrician.
Tics are common in children - approximately 15% of children will have a tic at some time. To have tourette syndrome a person should have tics that exist for at least one year and change form or become multiple, changing in form over time. Tics also wax and wane over time. ...Read more
Big problem: People/ Kids cant pay attention due to a brain chemistry imbalance, and the meds target that so the person can focus and concentrate and remember what people say to him/her. ...Read more
Have seen a couple: In three decades as a pediatrician, I have seen a couple. My first was during training & one in my practice. Most are felt to be caused by new mutations of one copy of chromosome 7. Years ago diagnosis was based on physical findings, today a gene test or "fish" test probe can be done on potential patients for confirmation. ...Read more