EmanuelSyndrome.org - Sponsored by Chromosome 22 Central

ISSUES FACED BY OUR CHILDREN

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. 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. 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 my daughter 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.

MISCELLANEOUS ABNORMALITIES IN T(11;22) CHILDREN

There are a large variety of abnormalities in t(11;22) cases. Cleft palate (includes Pierre Robin Sequence), heart defects, mental and physical delays, ear abnormalities, genital/anal malformations, dislocated hips, and kidney abnormalities, are among the most common findings. I have gone through several case studies, as well as letters sent in to me by 11;22 families, and have compiled this list of findings. They are NOT listed by percentage, or in any particular order, and the fact that they are listed does NOT mean that your child will have/develop these symptoms. It may be that only one or two cases have ever presented these problems. If you are a parent reading this and have a child with additional findings not presented here, I'd be pleased to add them. If you are unfamiliar with any of the terms here you are advised to discuss them with your own medical professional.

*means this issues was not visible to me in the current medical literature, but seen in members of our group.

Heart Issues:

Coarctation of the aorta
Double aortic arch
Atrial Septal Defect
Ventricular Septal Defect
Hypertrophy of the right ventricle
Papillary asymmetry
Cardiomegaly
Ventricular hypertrophy
Supracardiac totally anomalous pulmonary venous connection
Separate valvar orifices for the right and left ventricles
Exclusively atrial shunting
Stenosis of the pulmonary artery with secondary hypertrophy of both ventricles
Persistent left superior vena cava
Partial right bundle branch block
Endocardial cushion defect
Persistent ductus Botalli
Fibroelastosis of the right ventricle
Tetralogy of Fallot
Patent Bottalo duct and foramen ovule
Anomalous venous pulmonary drainage
Ebstein anomaly
Pulmonary stenosis
Mitral valve leak*
Missing pericardium*

LUNGS

Bronchiectasis *
Hypoplastic lungs
Hypoplasia of the left lung and bronchial tree
Reactive airway disease*

SKELETAL/ORTHOPEDIC

Scoliosis
kyphosis
Hip dislocation
Limited hip abduction
Incomplete elbow extension
Posterior dislocation of the coccyx
Small hands and feet
Proximally displaced fingerlike thumbs
Retarded bone growth
Torticollis
Flexion contractures in elbows, hips and knees
Rockerbottom feet
Hyperflexibilty and hypermotility of joints (knees, elbows, etc.)
Flexion contractures of the fingers
Slightly protruding heels
Feet in calcaneovalgus position
Arachnodactyly (abnormally long and slender fingers)
Club feet
Hypocalcification of the lower limbs
Abnormal clavicles
Absent midportion of right clavicle
Butterfly cervical vertebrae
Extra pairs of ribs
Cubitus valgus (deformity in which the elbows are turned out)
Pectus excavatum (suken or “funnel” chest)
Extra bone in left forearm*
Syndactyly of toes
Long, tapered fingers
Sprangles deformity* (shoulder blade)
Tethered spinal cord *

Ears

Larger ears
Low set ears
Missing or malformed outer ear
Malformed inner ear bones
Ear pits
Ear tags
Narrow ear canal
Third helix
Anteriorly rotated ears
Absence of auditory canals
Sensorineural and conductive hearing loss

INTERNAL

Uvula agenesis
Bifid uvula
Cleft palate – soft and/or hard
High palate
Pierre Robin Sequence
Glossoptosis
Small epiglottis
Excess cartilage in airway*
Downcurved mouth
Micrognathia (small jaw)
Bulbous nose
Prominent/long philtrum
Large nose
Choanal atresia*
Paralyzed vocal cords*
Esophageal atresia
Tracheobronchomalacia
Subglottic stenosis*
Laryngomalacia
Dolicho and mega colon
Absence of gallbladder
Hepatosplenomegaly
Involuted thymus with increased number of Hassall’s corpuscles
Malrotation of gut
Malrotation of the small bowel
Malrotation of the sigmoid and transverse colon
Malrotated stomach*
Splenomegaly
Supernumerary spleen
Inguinal hernias
Umbilical hernias
Diaphragmatic hernia
Pyelonephritis – (infection of the renal pelvis)
Intrathyroid position of the parathyroid glands

BRAIN

Chiari malformation *
Dandy Walker malformation
Malrotated and vertical hippocampi
Lateral ventricular asymmetry and dilatation of the 3^rd and 4^th ventricles
Malformed hemispheres of the cerebellum with dilation of the subarachnoidal space
Cerebellar dysplasia
Brain bleeds/hemorrhage *
Seizures
Agenesis of the corpus callosum *
Brain calcifications*
absence of the olfactory bulbs and tracts
Hypoplasia of the corpus callosum
Aplasia of the gyrus cinguli
Aplasia of the commissure anterior/posterior
Hypoplasia of pons
Hydrocephaly
Rotation of the cerebellar vermis
Periventricular cysts on brain *