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DEVELOPMENTAL IN CHILDREN WITH EMANUEL SYNDROME (the information contained here is obtained from personal contact with families and case studies. Please be advised that ALL cases of t(11;22) differ, some of the children in our group are more advanced than others, but all experience a delay in cognitive and motor skills to some degree. In every instance please consult your own health professionals for advice. Information contained here is for educational purposes only) MENTAL DELAYS Unfortunately, one of the most difficult aspects of having a child with Emanuel Syndrome is developmental delay, both mentally and physically. Early Intervention is the best chance your child has at reaching his or her full potential. There are a lot of things that can be done to help stimulate your child's mental development and physical development. Most places will have a local Early Intervention Program, which your child can be referred to. They will give you ideas on how to stimulate your child's senses, to help with sensory defensiveness, speech development, and physical development. SPEECH Of the 150 members in our group affected by Emanuel Syndrome, very few have any speech. Some are able to learn a few words, and even a couple have been able to speak in sentences, but this is extremely rare, and not the norm. The majority of our children are non-verbal, and many have used alternative methods of communication such as sign language and Picture Exchange Communication System. PHYSICAL DELAYS & ABNORMALITIES Hypotonia is found in approximately 30% of children with t(11;22). This is best described as generalized "floppiness"; lack of muscle tone in a child. It is a characteristic of central nervous system dysfunction, and the child is unable to create enough force in its joints to be able to support movements. Physical therapy is the best help for this, and it can be improved, though the individual will likely always be low toned. Congenital hip dislocation is also a common finding in t(11;22) children, (about 25%), and sometimes requires surgery. Early treatments that can be helpful are double diapering, to keep the legs in a "frog leg" position, or casting may help. In Maia's case, she had hip dysplasia (her hips were very shallow, not properly formed around the leg bone, and her hips were discovered to be dislocated from her 2nd month of life. She was double diapered for several weeks, and on the advice of her therapist, we used standing frames to increase the weight on her hips, which helped them to develop normally. She is currently followed by an orthopedic specialist, but we do not anticipate needing surgery, though some of our children have required surgery. Complications of hip dysplasia/dislocation may lead to arthritis later in life. Heart Defects: Approximately 50% of children with unbalanced 11/22 translocation will be born with some type of congenital heart defect. There can be many different heart defects associated with children who have t(11;22) The most common that have been reported, are ASD's VSD's, & PDA's, but there are also others noted. Walking in children with t(11;22) is delayed. The earliest report of a child with t(11;22) walking independently is age 2 or 3, though from what I have seen, the majority of children that do learn to walk, will walk at around age 5 or older. Some children will not walk until even later, and some, not at all. As in any syndrome, the cases ALL vary. The best advice is consistent encouragement and therapy. If you are a new parent reading this for the first time, I know how difficult it can be to hear. Please contact us to be put in touch with other members for support |
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HEAD OFFICE - for ALL inquiries:
Chromosome 22 Central, c/o Stephanie St-Pierre, 237 Kent Avenue, Timmins,
Ontario, Canada P4N 3C2 tel/fax: (705) 268-3099, EMAIL: steph.stpierre@gmail.com
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US Head Office - for US donations: Chromosome 22 Central, c/o Murney
Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526
USA, tel (919) 567-8167, EMAIL: 
Latin America / Spanish inquiries -
Laura Munoz, Robinson Crusoe 1209, Las
Condes - Santiago, Chile tel: 02-3251262 EMAIL: