INTRODUCING    CHARGE    Syndrome     

A short guide for parents and friends of those with CHARGE syndrome

© a publication of CHARGE Syndrome Canada 

This booklet tries to answer questions which are frequently asked by parents or other friends of someone who has CHARGE syndrome. 

This information is in no way intended to replace a doctor's advice or care.  If you suspect your child has CHARGE syndrome, it is recommended that you seek professional advice from a pediatrician and contact a medical geneticist who is familiar with CHARGE syndrome.

Author: Ann Gloyn, Education Specialist

written at the request of CHARGE Syndrome Canada Inc.

 for CHARGE Syndrome Canada Inc.

Edited by:  Anne Berstein and Phil Small

OUR THANKS TO:

 WHY IS IT CALLED

CHARGE SYNDROME?

The acronym “CHARGE” refers to the first letter of key features which were  put together as an association of characteristics children could be born with.  In 1981, a 21- case sample was used (Pagnon, Graham, Zonana, Young) which brought the letters together in order to identify primary characteristics.  

In the early findings,  the acronym,  “CHARGE”  was published as an association of characteristics which would enable doctors to investigate further the case of a young infant who was born with heart problems, choanal atresia, and problems with feeding and growth in order to have early identification for some less obvious body systems which were also found to be affected.  These could  include the systems and organs of the eye and visual system; organs of  hearing and vestibular sense; or renal and endocrine difficulties.

As the population of individuals with CHARGE syndrome is identified, we begin to learn more about the many characteristics which could appear in this syndrome. The criteria under which a diagnosis of CHARGE is made continues to evolve in the medical profession as more research is completed.

CHARGE Syndrome is now considered to be very multi-faceted in nature, and is the leading cause of deafblindness in infants and children, although not all children who have CHARGE will be functioning deafblind.   While there are key features which help to identify individuals, many characteristics can vary so greatly that it is often difficult for medical professionals to make a diagnosis.

WHAT IS THIS SYNDROME?

CHARGE syndrome is presently considered rare and unpredictable.  It is also very complex.  CHARGE syndrome is better explained in the realm of a “missing tissue” disorder, or the “incomplete development” of various structures in the body.  Factors of narrowing or missing tissue in various systems in the body could be relatively mild, or the clinical outcome could be more severe. Many organs can be affected with missing or underdeveloped tissue, and each one can be 0-100% affected. This means that lots of combinations exist. 

Those individuals who have CHARGE syndrome will not all be affected equally with the same clinical features.   The combinations which exist in affected individuals can make outcomes very different from child to child. Yet there are children with CHARGE syndrome who are characteristically similar in appearance. 

CHARGE syndrome is thought to be genetic, although genes could be influenced by environmental or metabolic factors, or a combination of these causes.  It is NOT due to exposure to drugs or alcohol.  It is believed that somewhere in the third week of fetal development, when neural crest cells are forming, something occurs to alter normal development.

There is ongoing research attempting to look at possible genes implicated in CHARGE syndrome.  Dr. van Ravenswaay from the Netherlands  (Journal of Nature Genetics, 2004), while working with Dr. Admiraal, an Ear Nose and Throat specialist, studied 17 children with CHARGE who also all had vestibular abnormalities.   They found that 10 of the 17 children studied had an abnormality of the CHD7 gene.  Parents in the study did not show a change in that gene.  Further investigation later found one male parent and one female parent had in fact a difference in their gene.  We will know the significance of this finding as more research unfolds.

Presently, diagnosis of CHARGE syndrome can be made by a geneticist or pediatrician who is familiar with the syndrome, using the criteria outlined by Dr. Blake in the Canadian Pediatric Surveillance System study (2003).   A scan of inner ear vestibular anatomy can assist in diagnosis according to this study, although there are children who have been diagnosed with CHARGE syndrome who do not have vestibular system malformation.   Upon the discovery of the possible existence of CHARGE syndrome, a complete clinical examination of the body's systems is necessary by a medical multi-disciplinary team.  

WHAT ARE THE FEATURES THAT COULD BE INCLUDED?  

Not all individuals have the same features and not all features appear in each individual, which makes diagnosis very complicated.  It is a good indication that an individual has CHARGE syndrome if four major characteristics and two minor ones are present.  Further investigation of the possibility of CHARGE syndrome is suggested when there is diagnosis of two common features present and several minor ones. There are groups of children with CHARGE who look the same, and subgroups of others with CHARGE who appear to look the same, yet are quite different from the first group. 

There are those with CHARGE who could have facial palsy, and those who could have a typical cranial structure with a prominent forehead.  There is often a characteristic look to the ears, which could include ears which are low set, lop ears, misshaped outer

ears,  or  mismatched ears.  There is the occasional case of a child with CHARGE whose ears are not affected.

Some typical ears:

REVISED  CRITERIA 2003

Definite CHARGE: 3 Major characteristics or 2 Major and 3 Minor Probable/Possible CHARGE: 

1 Major characteristic and several minor or other characteristics

*Evaluation for a diagnosis should be made by a geneticist who is familiar with CHARGE syndrome.

MAJOR CLINICAL FEATURES                               typical iris coloboma

MINOR FEATURES                              Characteristic CHARGE hand

*(HEFNER 2004)

WHAT ARE THE IMPLICATIONS OF THIS SYNDROME?

There are many possible implications,  although not all children will experience these.

• Sensory loss factors     
• often lack of ability to integrate information
• many medical factors   >inefficient digestion and elimination

                                              >ear infections

                                              >food allergies and intolerances

                                              >development of latex allergy

                                              >chewing/sucking/swallowing difficulties

                                              >inefficient sleep patterns

                                              >other fatigue factors (often due to heart/circulation)

                                              >weak immune system

                                              >dental issues

• long hospital stays
• a range of early experiences which are stressful for the infant
• lack of early efficient communication
• management of behaviour issues

WHO DO I NEED ON MY TEAM?

• Decide early on who will be the team leader.  This could be the professional in genetics, family doctor or often the parents.  Later when the medical issues have been resolved, a therapeutic team leader is useful, making sure all relevant information has been organized and shared.  

• many professionals will need to be involved, leading to a multi-disciplinary team

*many medical/clinical professionals

*early intervention resources

*vision/hearing/deafblind resource       consultants

*occupational therapists, physiotherapists

*speech and language therapists

*nutritional counselors and dieticians

*visiting nurse

*social worker

Eye Care Professionals

*regular visits to the ophthalmologist

*pediatric optometrist can help with early vision correction, patching, or eyeglass tints for light-sensitive vision

*behaviour optometry exercises to enhance the use of both eyes working together

Evaluations in audiology

*should begin early and continue on a regular basis

*hearing aids or other amplification devices should be worn as early as diagnosis can be made to help avoid language and speech delay

Other therapies which individuals with CHARGE syndrome have been involved in:

*cranial-sacral work by:

-chiropractors/applied kinesiologists

-cranial-sacral therapists

*electronic stimulation

therapy (to enhance swallow)

*sensory integration therapy:

-usually done by an  occupational therapist or physiotherapist

*hippotherapy

-on horse for vestibular development

-theraputic riding centers

*Neurodevelopmental Approaches:

HANDLE ® therapists, BRAIN GYM ® therapists

*music therapy

*horticultural therapy

WHAT ARE THE LONG TERM IMPLICATIONS?

The children with CHARGE syndrome usually catch up on many developmental milestones.  They often need more time taken for both situational transitions,  as well as for learning and processing specific skills.  

Gross motor development usually shows delay, and they are slow to develop these skills according to milestones set out by other children.  This could be due to a number of factors which include long periods in the hospital; lack of depth perception and/or visual field loss; missing or malformed vestibular tissue that the system of balance depends on; and/or the implications of many medical procedures including G-tube placement or extended time needed for skills such as oral feeding.   Despite problems with balance, these children do learn to walk! 

There are reports which indicate some individuals with CHARGE syndrome develop challenging behaviour.  This could be due to a number of factors, some of which are hypothesized as:  early attachment and bonding interrupted; brain malfunction which could include executive function deficits and lack of impulse control; endocrine and hormonal factors; deficient sensory processing and/or sensory deprivation; lack of efficient communication; neurological dysfunction; issues with early reflux, inefficient digestion processes, food intolerances and allergies, increased use of antibiotics; painful medical interventions and procedures.  With early intervention, the acquisition of  communication strategies, and utilization of specialized methods and techniques, behaviour issues can be well handled.

There are presently very few studies which document cases of CHARE syndrome over the life span.  The issues that could be important include investigation into growth hormones, both in the first year of development and certainly again once the individual is at the age where puberty should occur.   Although clinical research has not been completed on these issues, some young adults with CHARGE have examples of the following in young adulthood:  repeated bladder infections; loss of bone density; retinal detachment or glaucoma; and changes in the status of hearing. 

WHAT  ABOUT COMMUNICATION?

Communication can take many forms, including non-verbal.  The key thing to remember is that communication is a process which occurs during an exchange between two individuals.  If a response is expected during the exchange of information, then you will become more aware that communication is taking place, beginning in the simplest form.  While most children do communicate, some have difficulty developing language in the system and by the processes that we normally know.

Most individuals with CHARGE syndrome have difficulty with the initiation of language.   This could be due to hearing impairments or problems with auditory processing; the lack of early visual cues; learning disabilities; global apraxia; or brain malfunction in those critical areas needed for language development and expression. 

Many find a system using “total communication” helpful early on.  This could include beginning with body gestures or simple signs, and could evolve into using formal signs, cued speech, speech with key words, speaking and signing together, pictures, drawings, large print or Braille, magnification devices, computers, and other technology. 

There are examples of individuals with CHARGE who have graduated from the school system, completed post-graduate education, and have become contributing members of our society.  There are others who have a level of supported independent living, which could include job placements and volunteer experiences, the enjoyment of recreational and leisure experiences, and have the ability to care for their basic life needs with support. 

WHAT KEY FEATURE WILL BE THE MOST DIFFICULT ?

The combined lack of vision and hearing and the involvement of other sensory systems,  such as the lack of the sense of smell, the lack of reliable vestibular information, and often an inability to integrate or process sensory information efficiently, create unique learning challenges for these individuals.   They are multiply sensory challenged and yet can learn to function well under certain environmental conditions, often relying on partial information from residual senses.  They do require specialized methods and techniques in their learning environments.  Those who have experience in deafblind education will better be able to assess the needs of the individual with CHARGE syndrome, and help adapt the learning or working environment.  This could include making recommendations to have a communication partner working with the individual.

Parents report that in early experiences with the infant who has CHARGE syndrome; issues with feeding, toileting and disrupted sleep patterns were the most difficult challenges.  Parents of young children are ready to share these experiences so that others now have more information available to them to help them get through the early years. 

Continued medical procedures, appointments, therapy, and weak immunity are other challenging issues reported.  These can cause a number of disruptions in the life of the family.  Parents of children who are older can confirm that these issues do resolve, and there is hope for more regular experiences to occur in families.  During difficult times, developing a strong support and information network is important.

REFERENCES

Blake KD et al.: CHARGE Association - An update and review for the primary pediatrician. Clin Pediatr 37(3):159-73, 1998.

Blake KD.  Quarerly Report “CHARGE association/syndrome” Published by the Canadian Paediatric Surveillance Program (CPSP) 2003 Results: www.cps.ca

Blake K.D., Salem-Hartshorn N, Abi Daoud M, Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clinical Pediatrics. In Press 2004.

Issekutz K, Granham J, Jr., Prasad C, Smith IM, Blake KD.  An Epidemiological Analysisi of CHARGE Syndrome: Presliminary results from a Canadian Study.  Americal Journal of Medical Genetics. In Press 2004.

Lawand CMD, Blake KD, Prasad C, Granham JM Dr. 2003 The Cranial Nerve Anomalies of CHARGE association/syndrome. (A/S). Paediatrics and Child Health. 8 (Supp B abstract 38): 26B

Hefner, Meg. CHARGE 101.  CHARGE Syndrome Canada Workshop, Hospital for Sick Children, Toronto Ontario, 2004.

Vissers LELM et al.  Mutaitons in a new member of the chromodomain gene family cause CHARGE syndrome.  Nature Genetics online 8/8/04.

                            
HOW CAN WE HELP?

                        CHARGE Syndrome Canada (CSC) has internationally established networks.  We can help provide information and resources, or direct requests to other contact families, organizations, or professionals who may be able to assist you. Feel free to contact our e-line at admin@chargesyndrome.ca

If you would like to know more about CHARGE Syndrome, please contact

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