Stability and decline in gross motor function among children and youth with cerebral palsy aged 2 to 21 years

This paper reports the construction of gross motor development curves for children and youth with cerebral palsy (CP) in order to assess whether function is lost during adolescence. We followed children previously enrolled in a prospective longitudinal cohort study for an additional 4 years, as they entered adolescence and young adulthood. The resulting longitudinal dataset comprised 3455 observations of 657 children with CP (369 males, 288 females), assessed up to 10 times, at ages ranging from 16 months to 21 years. Motor function was assessed using the 66-item Gross Motor Function Measure (GMFM-66). Participants were classified using the Gross Motor Function Classification System (GMFCS). We assessed the loss of function in adolescence by contrasting a model of function that assumes no loss with a model that allows for a peak and subsequent decline. We found no evidence of functional decline, on average, for children in GMFCS Levels I and II. However, in Levels III, IV, and V, average GMFM-66 was estimated to peak at ages 7 years 11 months, 6 years 11 months, and 6 years 11 months respectively, before declining by 4.7, 7.8, and 6.4 GMFM-66 points, in Levels III, IV, and V respectively, as these adolescents became young adults. We show that these declines are clinically significant.     

Liver transplantation in tyrosinaemia type 1: the dilemma of timing the operation

Four children with tyrosinaemia type 1 received liver transplants. The metabolic disorder was corrected and all four had normal liver function on an unrestricted diet. Two children, transplanted at age five and seven years, proved to have occult hepatocellular carcinoma and both subsequently developed pulmonary metastases. One child was well 32 months after removal of a single pulmonary metastasis but the other child died with multiple metastases. The two younger children, transplanted at age 19 and 21 months, were well 28 and 44 months after operation, one after a second liver transplant. Our experience confirms the high risk of hepatocellular carcinoma in this disease and the potential value of early liver transplantation.     

Otoacoustic emissions as a screening test for hearing impairment in children

Transient evoked otoacoustic emissions (TEOAEs) are low amplitude sound waves produced by the healthy cochlea. They can be recorded with a microphone in the external ear. TEOAEs are abolished by hearing losses of 30 dB or more. The feasibility of using TEOAEs as a screening test for hearing loss in children was studied. TEOAE recordings were attempted in 56 children attending an audiology clinic. Recordings were possible from both ears in 52 children; of these 104 ears, 32 had hearing deficits of 30 dB or more. Hearing status was compared with the results of six TEOAE screening criteria. All criteria had a sensitivity of 1.00. Four standard TEOAE criteria yielded specificities of 0.46-0.58. Two new criteria derived from analysis of limited frequencies from the TEOAE waveform gave specificities of 0.76 and 0.82. It can be concluded that, when appropriate pass/fail criteria are employed, TEOAEs are a feasible screening test in children.     

Chronic lead poisoning-- a" forgotten" cause of anemia

We present the case of a female patient with a chronic hypersideremic anemia associated with digestive and neurological symptoms, with a long time ignored toxic history. The diagnose was based on very high levels of lead in serum and urine, very high levels of D-aminolaevulinic acid in the urine, and the presence of basophilic stippling of erythrocytes in the smear of the patient. Lead intoxication was due to ingestion of home-made alcohol (domestic devices made from lead mixtures) and of yogurt preserved in lead-glazed mugs.     

Selective dorsal rhizotomy: efficacy and safety in an investigator-masked randomized clinical trial

The objective of this single-center investigator-masked randomized clinical trial was to investigate the efficacy and safety of selective dorsal rhizotomy (SDR) in children with spastic diplegia. Forty-three children with spastic diplegia were randomly assigned on an intention-to-treat basis to receive SDR plus physical therapy (PT), or PT alone. Thirty-eight children completed follow-up through 24 months. Twenty-one children received SDR (SDR+PT group) and 17 received PT (PT Only group). SDR was guided with electrophysiological monitoring and performed by one experienced neurosurgeon. All subjects received equivalent PT. Spasticity was quantified with an electromechanical torque measurement device (spasticity measurement system [SMS]). The Gross Motor Function Measure (GMFM) was used to document changes in functional mobility. Primary outcome measures were collected at baseline, 6, 12, and 24 months by evaluators masked to treatment.
At 24 months, the SDR+PT group exceeded the PT Only group in mean reduction of spasticity by SMS measurement (-8.2 versus +5.1 newton meters/radian, P=0.02). The SDR+PT group and the PT Only group demonstrated similar improvements in independent mobility on the GMFM (7.0 versus 7.2 total percent score, P=0.94). Outcomes on secondary variables were consistent with primary outcomes. There were no serious adverse events. We conclude that SDR is safe and reduces spasticity-in children with spastic diplegia. SDR plus PT and equivalent PT without SDR result in equal improvements in independent mobility at 24 months. SDR may not be an efficacious treatment for children with mild spastic diplegia.     

Early diagnosis in hypertrophic cardiomyopathy--case report

Disproportionate heart muscle enlargement compared with little or no chamber enlargement are characteristic for hypertrophic cardiomyopathy (HCM). The clinical course of HCM is highly variable. Many patients are asymptomatic or mildly symptomatic and may be relatives of patients with known disease. Unfortunately, the first clinical manifestation of the disease may be sudden death, frequently occurring in children and young adults, often during or after physical exertion. We present 2 cases of HCM who emphasize the variability of clinical and ECG modifications and underline the importance of routine echocardiography in patients with atypical cardiac symptoms in order to identify the disease and prevent high risk for sudden death.