CHARGE Syndrome: an Italian experience
Patrizia Ceccarani, Director of the Rehabilitation Center, Lega del Filo d’Oro, Osimo, Ancona, Italy
The Lega del Filo d’Oro1 in Osimo is a non-profit organization for people with multi-sensorial impairments. In collaboration with the Pediatric Clinic of the Institute of Maternal-Infantile Sciences in Ancona, Italy we take care of about 60 patients aged between 0 and 35, from all over Italy that are clinically diagnosed with CHARGE syndrome according to the classification described by Blake et.al, 19982. We consider that our caseload is representative of the Italian population of people with CHARGE syndrome.
With this in mind, a study was carried out based on 35 of the identified patients and published (online) in the American Journal of Medical Genetics (2014 Dec;164(12):3042-51. doi: 10.1002/ajmg.a.36758. Epub 2014 Sep 24):
Cognitive-Motor Profile, Clinical Characteristics and Diagnosis of CHARGE Syndrome: An Italian Experience.
Lucia Santoroa4, Anna Ficcadenti4, Federica Zallocco4, Giada Del Baldo4, Francesca Piraccini5, Rosaria Gesuita5, Patrizia Ceccarani1 and Orazio Gabrielli4.
Since 2005, the Pediatric Clinic of Maternal-Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d’Oro in Osimo (Italy), has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigation is the largest Italian cohort study of CHARGE patients. CHARGE syndrome is a multiple malformation syndrome involving ocular coloboma, heart defects, choanal atresia, retardation of growth and/or development, genital anomalies and/or urinary and ear abnormalities which leads to visual–auditory disabilities, cognitive impairment and behavioral abnormalities. Our purpose is to expand the knowledge of this syndrome by reviewing this group of affected patients in order to delineate in detail the natural history of the disease, and in particular to define the cognitive and motor profiles using an Italian questionnaire called “Progress Guide”. Our main results show that Italian CHARGE patients have more delayed development in their physical abilities or skills with respect to normal patients. In particular, the delay is statistically significant in regard to self-care skills (worse at toileting; better with washing) and the communication skill (language). On the other hand, their expressive skills are still preserved. When patients are considered according to their age (≤3 years) and (>3 years), the older ones have more delayed development than the younger ones when compared with healthy individuals of the same age.
For more information contact Patrizia Ceccarani (firstname.lastname@example.org)
1 www.legadelfilodoro.it . Lega del Filo d’Oro is a large corporate member of DbI.
2 Blake K.D., Davenport S.L., Hall B.D., Hefner M.A., Pagon R.A., Williams M.S., Lin A.E.&Graham J.M. CHARGE association:
an update and review for the primary pediatrician. Clin Pediatr (Phila) 1998; 37: 159–73. [PubMed]
4 Division of Pediatrics, Department of Clinical Sciences, Salesi Hospital, Polytechnic University of Marche, Ancona, Italy
5 Center of Epidemiology, Biostatistics and Medical Information Technology, Polytechnic University of Marche, Ancona, Italy
Portraits from the Deafblind Program at The Holy Land Institute for Deaf in Jordan
Ten children and two adults are living, staying and learning in the Deafblind program of The Holy Land Institute for Deaf1. Each one of them is unique and special; it is a pleasure for all the hearing and Deaf staff to be part of their development and see each day even their smallest progress. A speciality of our Deafblind work is that it takes place in an institute for Deaf and Deafblind children. Some of the older Deaf students assist the Deafblind children as part of their vocational training. That enables them to leave behind their own disability and experience the joy of helping someone else in need.
As our Deafblind Unit has been expanded with a part of a new building for the Deafblind, the children have found much fun in the new sports facilities. Here they do exercises and one or the other can show their abilities. It is also a great pleasure that we can play outside on the new roof terrace.
Murhaf five years old is the youngest boy in the Deafblind Unit. He is from a very poor family, who care with much love for him. When Murhaf came to us three years ago, he could neither walk nor communicate in any manner. Meanwhile he understands also a few signs like drinking or eating and has learned to walk. Murhaf loves to put all kind of things he can reach or touch into his mouth.
Twelve year old Hadiel is one of the most active Deafblind children in our facility. With her high spirits and joyful character she keeps her teachers always on the go. She likes to eat sweets and to turn around in a circle. Hadiel understands about 25 signs and in comparison with other Deafblind children she has a very good sleeping cycle. Sometimes when she becomes very nervous, she cries then a lot and rejects any contact, which can be very stressful for the people around her.
Issa, 13 years old and blind since his birth, has been several years at the school. With his aphasic symptoms and has not started to speak and is hence educated as Deafblind. Issa loves to listen to music, to play for hours and to touch things (preferably those that are soft ). He comes from a loving and well-to-do family, who however do not know how to educate their son and to teach him things. He has now learned to walk and to express himself with simple signs. The educators always speak to him and meanwhile he understands a few spoken instructions and can execute these. The nicest thing is when Issa starts to hum. He manages a few melodies, which makes the people around him always very happy.
Hanady is already 53 years old. She came in the beginning of last year for the first time to the school after her mother had passed away. She was already Deaf as a child and on top of that became blind when she was twenty. It is amazing how well she is keeping up at her age and how well she manages the sign language. She is accompanied each day by her Deaf teacher Iman, who trains her with Braille, moving around with the blind stick etc. She is very happy to be here and that she can now live in the boarding school with the Deaf girls.
Rahmeh was born premature at 6 months and because of this she is Deafblind. She experiences painful problems with her eyes which were replaced by small light blue glass eyes. She has some hearing in one ear which results in her love for music. She loves to jump on the trampoline. She is a very unobtrusively calm girl, who is much loved by the other Deaf students. When she has nothing to do she likes to click with her tongue.
Hazem is 14 years old, totally blind but with some residual hearing. He comes from a very loving family who cannot communicate with him.
Repeatedly, Hazem’s teacher encourages the parents to learn more sign language because at home the parents only use the simplest signs for “eating” and “drinking”. But Hazem understands much more than these signs. As he can hear in one ear a little, he likes to sit down and listen for hours to a CD-Player or a singing toy. As soon as he becomes bored, he makes noises like “wua wua wua” to get the attention of the teachers. It’s always very nice to see Hazem when he is happy, then he laughs aloud and shows his happiness by moving his right handback and forth like he would throw a ball.
Mohammed is seven years old, blind and Deaf. He is still very new in the school and still expresses himself very weakly. Because he has very weak muscles and cannot yet walk, he is always moved around in a small wheel chair.
But the Deaf students and the teachers care lovingly for him and try to teach him many signs. His main activity consists of moving his delicate little fingers back and forth and to play with small cuddle animals.
Due to a premature birth, 9 year old Kawthar is Deafblind and in addition of a weakness in her muscles. When she came for the first time to the institute, she could neither sit up nor walk. First she learned to sit and then needed a wheel chair for some years. In the meantime she has learned to move about and each step is a success and a joy for everybody. Kawthar is a very quiet child; is seldom nervous and most of the time has a smile on her face. She is one of the smartest children in the Deafblind Unit, who is making good progress. She likes to play the most with a soft toy and her favourite food is a dish of rice. Moreover she comes from a lovely family who cares so much about her and tries to turn the good advices of the teachers into practice.
Brother Andrew de Carpentier
The Holy Land Institute for Deaf and Deafblind, SALT, Jordan
1 www.cbm.org/programmes/The-Holy-Land-Institute-for-the-Deaf-292846.php (CBM is a large corporate member of DbI)