Doctor insights on:
Velocardiofacial Syndrome In Children
I have a fraternal twin brother with microdeletion 22q11.2 (velocardiofacial syndrome). What are the chances my children will have the same disorder?
Minimal: These odd micro-deletion syndromes are thought to arise as new defects which could be dominantly passed. Unless you carry it, you won't pass it to your kids and they would have the same risk as the general population to acquire it (new). You might benefit from discussing any and all genetic risk issues from both sides of the family with a geneticist. ...Read more
Velocardiofacial syndrome is a genetic condition that is characterized by cleft palate, heart defects, low immune system, low calcium levels, abnormal kidney formation, learning difficulties and characteristic facial appearance. Some people have very mild forms (or no symptoms at all). It's caused by a deletion in chromosome 22q11, and is a variant of the same disorder ...Read more
Genetic Disorder: A microdeletion of chromosome 22q11.2, usually a new mutation; 6-10% chance it came from a parent by autosomal dominant (50% chance) transmission. Most have intellectual disability, small head, motor & language delay; many also have autism & adhd. Unusual facial features. Risk of congenital anomalies of heart, palate, kidneys & immune system. Teens & adults may develop other psychiatric disorders. ...Read more
Unlikely: The majority of isolated cleft palates (meaning no lip involvement) are nonsyndromic (not associated with a syndrome). Associated signs and symptoms include cardiac abnormalities, abnormal facial features and learning disabilites. Genetic testing is only way to know for sure if suspicious clinically. ...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
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
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
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
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
Individual decision: It is a decision that is made by the parents and one that should be made after receiving accurate and complete information. ...Read more
Many: Teachers, speech, physical and occupational therapists as well as medical providers and psychologists are some of the career paths that would allow you to work with special needs children. If your goal is to work with these children you just need to decide in what capacity. Do you want to be hands on providing services or have more indirect role. The possibilities are endless. ...Read more
50% for each child: Marfan syndrome is caused by a mutation of the fbn1 gene on chromosome 15. An affected man (or woman) has one normal and one mutant fbn1 gene in each of his (or her) cells. For each of his children, the chance that he will pass on the mutation is 1/2 or 50%. This pattern of inheritance is called autosomal dominant. ...Read more
Autistic Disorder is: A categorical diagnosis given when a person's set of observable behaviors meet criteria in the diagnostic & statistical manual used by mental health professionals & developmental/behavioral pediatricians. Because it's the quality of social reciprocity & communication + repetitive movements/narrow, restricted areas of interest, not just a delay, it requires a thorough team evaluation for diagnosis. ...Read more
What careers are out there that work with autistic and Down syndrome children (and still have fun at it)?
Lots: There are quite a few fields, including nutrition, childhood development, child and adolescent psychology, child and adolescent psychiatry (physicians) and developmental and behavioral health pediatrics (physicians), or general pediatrics (physicians). As to whether any of these jobs are fun. . . That's up to each individual. ...Read more
My first cousin's baby has been diagnosed with Goldenhar/ OAV syndrome. No-one else in the family has it. Is it something I could pass to my children?
No: If your cousin's baby is the first in your family, it is very nearly impossible for you to carry a recessive gene (most of the Goldenhar cases are sporadic, that is, happen randomly). Only a tiny number are inherited and this small number of Goldenhar cases are identified when several members of a family are affected. Your children are very safe. ...Read more
No restrictions: I have identified only one child with 11q terminal deletion syndrome (in 36 years), but it was recently. I double-checked, because I didn't remember any dietary restrictions. Feed him whatever any child of his developmental age could eat. I hope you have been able to access all needed specialists - cardiology, hematology, ophthalmology, ortho, db pedes, genetics, as well as special education. ...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