Dr Judith Guedalia

The Happy Non-Dyslexic: Another Case In A Neuropsychologist's Journal
Avraham L. (not his real name) came in with his mother. As things have a way of happening, my previous patient took longer than expected, and I had gone into the waiting room to tell them of the delay. The waiting room is a large area that the Neuropsychology Unit (at Shaare Zedek Medical Center, Jerusalem) shares with Pre-Operative Clinic.
I asked a harried-looking mother of a boy who was walking around if she was waiting for me. She was, and as I apologized for the delay, I couldn't take my eyes off of the smiling boy as he walked, well, pranced around the large waiting area. There was an odd stiffness to his gait that first caught my attention.
I went back to my office to finish up with the previous patient and then called them in. I have to admit, though I was concentrating on finishing up, I was also trying to recall if I had ever seen anyone walk as that boy did.
When they entered the room, his wide gait and smile were the two features that I continued to notice. We began chatting; the mother had read an article in which I described a case relating to dyslexia (Latin for difficulty in reading). After reading this article she was very concerned about her son and felt that I was the address to answer her question: "Did he have this dreaded disorder of dyslexia?"
It is not infrequent today that people call for appointments after having have read something on the Internet. This woman did not have Internet nor was the crumpled article she showed me recent − in fact, it was probably over three years old.
I started to speak to them to get an Anamnesis (pronunciation: an·am·ne·ses − a preliminary case history of a medical or psychiatric patient). Avraham, an only child, was 10 years old (he looked a bit short for his age I thought); birth history was normal but he was hyper-kinetic as an infant. His motor movements were also jerky. This gave me an opening to ask if he had physical therapy or any other therapy.

All of a sudden Avraham began to laugh; a full and loud laugh. Nothing had been said that was at all funny, and though I do often try to engage my patients with humor, I had not done so yet. However, I did have a glimmer of a hypothesis. I started to ask other questions.

She looked at me a bit annoyed. Why was I asking so many questions; couldn't I just give an answer to her question?
I explained that this preliminary conversation was important so that I could "tailor" the testing appropriately. I proceeded with my questions. "Avraham," I asked, "do you enjoy recess?" Avraham was fidgety the whole time, and though he seemed to understand my questions, he was slow to answer. He nodded instead. His mom noted that he doesn't speak a lot.
I was thinking: early history of hyperkinesis, spontaneous laughter, stiff and jerky wide-gait walk, poor expressive speech with reasonable receptive language; might Avraham have Angelman's Syndrome? In 1965, Dr. Harry Angelman, a British physician, saw three unrelated young children with the type of behaviors I was observing in Avraham. He describes how he formulated a new diagnosis, as follows:
"It was purely by chance that nearly 30 years ago three handicapped children were admitted at various times to my children's ward in England. When on holiday in Italy, I happened to see an oil painting in the Castelvecchio museum in Verona, called a Boy With A Puppet. The boy's laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet Children. It was not a name that pleased all parents, but it served as a means of combining the three little patients into a single group. Later the name was changed to Angelman syndrome."
After some initial interest, this article lay almost forgotten until the early 1980's. In fact, many doctors denied that such a condition existed. In the past 10 years, American and English doctors have placed the syndrome on a firm footing with the ability to establish the diagnosis beyond doubt.
The fact that laughter is so frequent in Angelman's Syndrome (AS) is not understood even today. Laughter per se, in normal individuals, is not well understood. Studies of the brain in AS, using MRI or CT scans have not shown any defect suggesting a site for a laughter-inducing abnormality. Although there is a type of seizure associated with laughter, termed Gelastic Epilepsy, this is not what occurs in AS. The laughter in AS, seems mostly to be an expressive motor event.
As a result of the tentative diagnosis, I tested Avraham's ability to understand language and not rely on his poor expressive language skills to "muddy-the-waters" of an assessment of his cognitive abilities. He functioned in the low average range for being able to make a sentence with a series of pictures, and even to understand a "code" and able to apply it. These were positive signs for being able to communicate and learn by reading, or at least benefit from augmentative language therapy.
By the end of the session, I was sure that Mrs. L. was very cognizant of Avraham's problems. Although she may not have been given "a diagnosis" (tentative diagnosis), but she was doing all she could for her son. What was also obvious was that she loved her son the way he was and provided him with a lot of supplementary help. This is what brought her to my office in the first place. She had read an article about dyslexia and wanted to know if she could help him further.
I recommended that Avraham, who was quite social, would benefit from language therapy emphasizing complementary means of communication. An after-school program in theatre and especially "miming" might also increase his skills in communicating.
I also referred Avraham for further testing (neurological and genetic) of the possible Andelman's hypothesis. With this diagnosis they would probably be able to apply for a stipend, which would defray some of the costs of therapy. Finally, I gave Avraham's mother an answer to her initial question. No, Avraham does not have dyslexia. She stood up, shook my hand vigorously and said: "Baruch Hashem and thank you."
Internet Resources: Angelman H. Puppet Children: A report on three cases. Dev Med Child Neurol 1965: 7: 681-688. http://www.angelman.org; http://www.geneclinics.org/profiles/angelman.
Originally published in the Jewish Press on August 16, 2006.

Tags: Augmentative Language Therapy | Dyslexia | Hyper-Kinetic | Jewish Press | Puppet Children