Marianne Arner

The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability

The Manual Ability Classification System (MACS) has been developed to classify how children with cerebral palsy (CP) use their hands when handling objects in daily activities. The classification is designed to reflect the childs typical manual performance, not the childs maximal capacity. It classifies the collaborative use of both hands together. Validation was based on the experience within an expert group, a review of the literature, and thorough analysis of children across a spectrum of function. Discussions continued until consensus was reached, first about the constructs, then about the content of the five levels. Parents and therapists were interviewed about the content and the description of levels. Reliability was tested between pairs of therapists for 168 children (70 females, 98 males; with hemiplegia [n=52], diplegia [n=70], tetraplegia [n=19], ataxia [n=6], dyskinesia [n=19], and unspecified CP [n=2]) between 4 and 18 years and between 25 parents and their childrens therapists. The results demonstrated that MACS has good validity and reliability. The intraclass correlation coefficient between therapists was 0.97 (95% confidence interval 0.96-0.98), and between parents and therapist was 0.96 (0.89-0.98), indicating excellent agreement.

Association between gross motor function (GMFCS) and manual ability (MACS) in children with cerebral palsy. A population-based study of 359 children

BackgroundThe Gross Motor Function Classification System (GMFCS) has become an important tool to describe motor function in children with Cerebral Palsy (CP). The Manual Ability Classification System (MACS) was developed recently as a corresponding classification of manual ability. The aim of this study was to describe the association between gross motor function and manual ability in a total population of children with cerebral palsy.Methods365 children, born 1992 to 2001, who were registered in a population-based health care programme (CPUP) for children with CP living in the south of Sweden were included in the study. GMFCS was evaluated by the childs physiotherapist and MACS by the occupational therapist. CP diagnosis and subtype were determined by the neuropaediatrician at or after the age of four.ResultsGMFCS levels were available in all 365 children, MACS levels in 359 (98%). There was a poor overall correlation between gross motor function and manual ability. However, different associations between gross motor function and manual ability were found in the different diagnostic subtypes. Children with spastic hemiplegia generally had a lower level of manual ability than gross motor function (p < 0.001). The reverse association was generally found in children with spastic diplegia (p < 0.001). Children with dyskinetic CP had large limitations in both gross motor function and manual ability, with no significant discrepancy between GMFCS and MACS levels.ConclusionGross motor function and manual ability are often discrepant in children with CP, and the patterns seem to vary across the different subgroups based on the predominant neurological findings. To give a complete clinical picture when evaluating these children, both aspects have to be described. The GMFCS and the MACS seem to work well in this context and seem very useful in population-based studies, in health care registers for children with CP, and in clinical practice.

Hand Function in Cerebral Palsy. Report of 367 Children in a Population-Based Longitudinal Health Care Program

PURPOSE To describe aspects of hand function in a total population of children with cerebral palsy (CP). METHODS Upper extremity data were collected for 367 children who were born between 1992 and 2001 and were registered in a population-based health care program for children with CP. Hand function was classified according to the Manual Ability Classification System (MACS), the House functional classification, and the Zancolli classification. The type of spastic thumb-in-palm deformity was evaluated according to House. RESULTS In the total population of children with CP aged 4 to 14 years, 60% had more than minor problems with hand function (>MACS I). Independence in age-relevant, daily manual activities (MACS I-II) was noted in 87% of children with spastic unilateral CP and in 63% of children with spastic bilateral CP, but in only 20% of children with dyskinetic CP. According to the House functional classification, both hands were spontaneously and independently used in 55% of children (House 7-8), whereas 5% did not use either of their hands (House 0). Minor increase of flexor muscle tone (Zancolli level 1) was found in 69% of all children. Only 2% were in level 3 in both hands. Spastic thumb-in-palm deformity in 1 hand was found in 25% and in both hands in another 15%. CONCLUSIONS Limitations in hand function are common in all types of CP, but characteristics of the disability vary considerably between different CP subtypes. The MACS classification is useful to evaluate how well children can handle objects in daily activities. The House functional classification describes grip function in each hand separately; the Zancolli classification of finger and wrist extension and the classification of thumb-in-palm deformity according to House give an estimate of dynamic spasticity. All these classifications were shown to be useful in a population-based health care program, but further studies of the psychometric properties are required.

Epidemiology of Congenital Upper Limb Anomalies in 562 Children Born in 1997 to 2007: A Total Population Study from Stockholm, Sweden

PURPOSE There are few true epidemiological studies of congenital anomalies of the upper limb (CULA) on total populations in the literature, and most incidence studies are hospital based. The purposes of this study were to describe the epidemiology and classify all CULA in a region of Sweden during an 11-year period. METHODS Between 1997 and 2007, there were 261,914 live births in the Stockholm region. A total of 562 children born during this period were found to have CULA. From medical records and available radiographs, all cases were analyzed regarding the type of congenital anomaly, gender, laterality, occurrence among relatives, associated non-hand anomalies, and syndromes. All 585 main anomalies were classified according to the International Federation of Societies for Surgery of the Hand classification. Individuals with right- and left-side main anomalies belonging to different categories were counted as having 2 anomalies. RESULTS The recorded incidence of CULA was 21.5 per 10,000 live births. Of the 562 children, 304 were boys. The anomalies affected the right side only in 169 children, the left side only in 186, and both sides in 207. Non-hand anomalies were recorded in 129 children, most commonly in the lower limbs. In 99 children, there was a known occurrence among relatives. Failure of differentiation was the most common category (276 of 585) followed by duplication (155 of 585), failure of formation (103 of 585), undergrowth (18 of 585), generalized abnormalities and syndromes (14 of 585), overgrowth (10 of 585), and constriction ring syndrome (9 of 585). CONCLUSIONS The incidence of CULA in our region was similar to the only previously comparable total population study from Western Australia. The minor differences in incidences between the categories according to the International Federation of Surgical Societies of the Hand may be due to variations in classification strategy. The results of the present study can be used as a reference of CULA in a total population.

Fractures of the distal forearm in young adults. An epidemiologic description of 341 patients

We describe the epidemiology of all distal radial fractures in young adults (men 20-59 years, women 20-49 years) in Lund (1992-95) and Malmö (1994-95), Sweden. During the study period, there were 341 patients with 346 fractures in the two cities, found through the Hospital Register of Diagnoses in Lund and the register of the Radiology Department in Malmö. More than half of the fractures were dislocated and 2/3 of the cases involved the radiocarpal or radioulnar joints, in contrast to the predominantly extra-articular fractures in the elderly. There was an even distribution between sexes and the fractures were mainly caused by a severe trauma, i.e., more than a simple fall, most often sports injuries in January, February and May. Our findings suggest that distal radial fractures in nonosteoporotic young adults should be regarded as a special entity, at least in epidemiological studies. Possibly they also require treatment differing from that for osteoporotic fractures.

Wrist Flexion Strength After Excision of the Pisiform Bone

Diseases of the pisiform triquetral (P-T) joint and the pisiform itself are often treated with excision of the pisiform bone. The flexor carpi ulnaris (FCU) tendon inserts on the volar aspect of the pisiform, suggesting a loss of strength in wrist flexion following excision of the bone. Isometric and dynamic, isokinetical measurements were made using a strain-gauge dynamometer (Cybex II). Slight postoperative reduction of wrist flexion strength, compared with the contralateral wrist, was noted but not of clinical significance. It is concluded that one should not refrain from excision of the pisiform bone for fear of considerable strength loss in wrist joint flexion.

Collagenase clostridium histolyticum in patients with Dupuytren’s contracture: results from POINT X, an open-label study of clinical and patient-reported outcomes

In POINT X, a study designed to reflect clinical practice and patient treatment choices, 254 European patients received open-label collagenase for Dupuytren’s contracture. The most severely affected joint was treated first in 74% of patients. In total, 52%, 41%, 7%, and 1% of patients selected the little, ring, middle, and index finger, respectively; 79% had one or two joints treated. Only 9% of patients (n = 24) received 4 or 5 injections. The mean improvement in total passive extension deficit (TPED) was 34° on day 1, improving further by day 7 to 42°. This secondary improvement was maintained by day 90 and month 6. The mean number of injections/joint was 1.2 for the metacarpophalangeal joint and 1.25 for the proximal interphalangeal joint. Median time to recovery was 4 days; the mean improvement in hand function was clinically relevant as measured by the Unité Rhumatologique des Affections de la Main (URAM) score. In total, 87% and 86% of patients and physicians, respectively, were very satisfied or satisfied with treatment at month 6, although correlation between TPED and patient satisfaction was weak (Spearman −0.18, 95% CI −0.32 to −0.06). Collagenase was well tolerated, with 10 (3.9%) patients experiencing severe adverse events. As a real-world study, the POINT X findings can be generalized to the at-large population.

Using the MACS to facilitate comunication about manual abilities of children with cerebral palsy.

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A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

Mutations in the Sonic hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (ZRS, located within the gene LMBR1), commonly called the ZRS), cause limb malformations. In humans, three classes of mutations have been proposed based on the limb phenotype; single base changes throughout the region cause preaxial polydactyly (PPD), single base changes at one specific site cause Werner mesomelic syndrome, and large duplications cause polysyndactyly. This study presents a novel mutation—a small insertion. In a Swedish family with autosomal‐dominant PPD, we found a 13 base pair insertion within the ZRS, NG_009240.1:g.106934_106935insTAAGGAAGTGATT (traditional nomenclature: ZRS603ins13). Computational transcription factor‐binding site predictions suggest that this insertion creates new binding sites and a mouse enhancer assay shows that this insertion causes ectopic gene expression. This study is the first to discover a small insertion in an enhancer that causes a human limb malformation and suggests a potential mechanism that could explain the ectopic expression caused by this mutation. Hum Mutat 33:1063–1066, 2012.

Epidemiology of Congenital Upper Limb Anomalies in Stockholm, Sweden, 1997 to 2007: Application of the Oberg, Manske, and Tonkin Classification

PURPOSE To investigate the epidemiology of congenital upper limb anomalies (CULA) based on the newly proposed Oberg, Manske, and Tonkin (OMT) classification, to compare this classification with the International Federation of Societies for Surgery of the Hand (IFSSH) classification, and to provide incidence rates of the different CULA. METHODS In this study, the same 562 individuals with a CULA who were analyzed in a previous epidemiologic study based on the IFSSH classification were reclassified according to the OMT classification. All children identified with CULA and born in Stockholm County between January 1, 1997 and December 31, 2007 were included in the study. During the period there were 261,914 live births in Stockholm County, and the population of Stockholm County was 1,949,516 inhabitants at the end of the period. From medical records and available radiographs, all cases were analyzed regarding type of CULA, sex, affected side, associated nonhand anomalies, and occurrence among relatives. Individuals with right and left side anomalies belonging to different OMT subgroups were counted as 2 anomalies; thus, the material consisted of 577 CULA in 562 children. RESULTS It was possible to organize all CULA into the OMT classification. The largest main category was malformations (429 cases), followed by deformations (124 cases), dysplasias (10 cases), and syndromes (14 cases). We present the relation between the IFSSH and OMT classifications, elucidate difficulties within the OMT classification, and propose additions to the classification. CONCLUSIONS This study confirms that the OMT classification is useful and accurate, but also points out difficulties. With further refinements, we regard the OMT classification as a needed and appropriate replacement for the IFSSH classification. TYPE OF STUDY/LEVEL OF EVIDENCE Diagnostic III.