תוצאת חיפוש

Prader-Willi Syndrome: Medical, Emotional and Cognitive Facets

Varda Gross-Tsur, Yael E. Landau

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Prader-Willi syndrome, first described in 1956, is characterized by marked hypotonia, hyperphagia, severe obesity, short stature, hypogonadism, orthopedic problems, breathing- related sleep disorders, mild to moderate mental retardation and behavioral abnormalities. The incidence of this syndrome, an expression of a genetic imprinting error in chromosome 15, is 1:10,000-1:25,000.

We describe the medical, emotional and cognitive parameters of 34 patients in our multidisciplinary clinic for Prader-Willi syndrome. Their ages range from 5 months to 40 years and 20 are males. Excessive weight gain started at the age of 6 years, increasing to 170-370% of that predicted by height and age and short stature started after the age of 12. All males have hypogonadism; 6 patients have scoliosis. Breathing-related sleep disorders have occurred in 15.

Children above the age of 8 years underwent neuropsychological assessment: half (9/18) have borderline intelligence while a quarter have low-normal intelligence and the remainder mild to moderate mental retardation. Behavioral and social problems are common, and become more prominent during adolescence. ADHD was diagnosed in 10/18.

Attentional Characteristics of Developmental Right Hemi-Sphere Syndrome

Yael E. Landau, Varda Gross-Tsur

Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem

Developmental right hemisphere syndrome (DRHS) is characterized by emotional and interpersonal difficulties, attention deficit hyperactivity disorder (ADHD), visuo-spatial handicaps, subtle left body neurologic signs and failure in nonverbal academic domains, especially arithmetic. Concurrence of ADHD and DRHS is not surprising because research has implicated dysfunction of the right hemisphere in both syndromes. Furthermore, the right hemisphere has more brain areas devoted to attentional processing, making it more important and more vulnerable in attentional problems.

We describe the clinical parameters of DRHS as exemplified by 2 cases, a boy and a girl, both 13 years old. They participated in a study group in which attention and speed of performance were assessed in children with DRHS and were compared to children with ADHD and to a control group. A tendency to overfocusing, difficulty in inhibition, perseverative behaviors, stereotypy, and slowness and absence of hyperactivity characterized the DRHS group. These behaviors led us to hypothesize that the attentional symptoms in DRHS define a specific subgroup of ADHD which requires a different therapeutic approach.

Suprascapular Nerve Entrapment in a Basketball Player

Atzmon Tsur, Radi Shahin

Rehabilitation Unit and Dept. of Neurology, Western Galilee Hospital, Nahariya

A basketball player was shown to have a suprascapular nerve lesion without any history of shoulder girdle trauma. This acute neuropathy, never previously described in basketball players, is a result of repeated micro-trauma, due to nerve traction over the coracoid notch during violent movement ("dunking" most probably). Clinically, he was unable to abduct his arm and had some difficulty in external rotation. He developed atrophy in both the supra- and the infraspinatus muscles. Nerve conduction latency to the supraspinatus muscle was 8.0 ms, and to the infraspinatus, 8.5 ms. The compound muscle action potential registered in the supraspinatus was 1.224 mV, and in the infraspinatus, 1.237 mV. After 3 weeks of inactivity, recovery was spontaneous and practically complete.

Urgent Need for Prevention of Alcohol Drinking among Arab Youth

Shoshana Weiss

Dept. of Prevention, Israel Society for the Prevention of Alcoholism

A study was conducted in the winter of 1996 among 2,220 Arab adolescents in northern Israel. This fourth study among Arab youth dealt with frequency of drinking and amounts of alcohol drunk during a drinking bout. Among Christian, Druze and Moslem males there were 81.72%, 49.61% and 31.93%, respectively, who drank. The figures for females were 36.75%, 11.25% and 12.78%. About 4% of Moslem males drank 5 drinks or more consecutively, daily or every 2-3 days. The need for preventive efforts in the Arab sector is stressed.

Therapeutic and Toxic Theophylline Levels in Asthma Attacks

Aliza Zeidman, Joseph Gardyn, Zinaida Fradin, Gershon Fink, Moshe Mittelman

Dept. of Medicine B, Rabin Medical Center, Golda (Hasharon) Campus and Pulmonary Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva; and Sackler Faculty of Medicine, Tel Aviv University

Although first-line therapy for bronchial asthma has changed over the past decade to anti-inflammatory medication such as inhaled corticosteroids and cromolyn with possible addition of beta-agonists, theophylline is still useful and therefor widely used. However, several studies have raised serious questions regarding its efficacy in acute asthmatic exacerbations. These studies, the narrow therapeutic range of the drug, the frequency of side effects and interactions with common drugs, and individual variation in clearance and metabolism, have prompted its reevaluation in the management of asthma. Therapeutic serum levels of theophylline are between 10 to 20 mcg/ml. Most adults achieve these concentrations with daily slow-release oral theophylline preparations, 200-400 mg (approximately 10 mg/Kg) twice a day. However, when such a patient presents to the emergency room (ER) in an asthmatic attack, immediate intravenous theophylline is often given, regardless of maintenance treatment. Since the rationale for this common therapeutic approach has been challenged, the current study was undertaken. Serum theophylline levels were measured in 23 consecutive asthmatics presenting to the ER in an acute attack. 15 (68%) had therapeutic levels (above 10 mcg/ml) and 2 had toxic levels (above 20 mcg/ml), prior to receiving the standard intravenous theophylline dose given for an attack. These data indicate that most patients with bronchial asthma on oral maintenance theophylline do not require additional intravenous theophylline when in an attack. It probably will not benefit them and may even induce serious theophylline toxicity.