TARIFA ELÉCTRICA CORRESPONDIENTE AL CENTRO COMERCIAL

1.2.4.1 Growth retardation

It is common for females with RS to experience weight loss and deceleration of height, weight and head circumference. Having a normal head circumference at birth followed by a deceleration in head growth is one of the necessary diagnosis criteria (see section 1.2.2).

Holm (1986) assessed linear growth in 21 females with RS, 48% showed growth retardation with length or height below the 5^^ centile. Another 38% had shifted their linear growth downwards in the first years of life. Thommessen, Kase, and Heiberg (1992) assessed weight and height in 10 females with RS aged between three and 16 years. At the time of the study, seven girls were growth retarded with height for age below the 2.5^^ percentile for healthy children. Six girls were underweight with weight for height below the 2.5^^ percentile for healthy children. Markedly reduced height for age and/or weight for height was seen in all but one girl.

1.2.4.2 Motor disabilities

If females with RS can walk, they tend to do so with an abnormal gait. FitzGerald, Jankovic, Glaze, Schultz, and Percy (1990b) studied 32 RS individuals aged between 30 months and 28 years. Gait abnormalities were seen in all cases. A jerky gait was seen in 10 of the 32 patients, nine were unable to walk, and the remainder had a broad-based gait. One also toe- walked and eight had mixed gait disturbances. The gait abnormalities have often been described as ataxic (poor muscle co-ordination) and apraxic (difficulties in planning and co-ordinating movements). Ataxia and apraxia have also been used to describe the jerky movements of the trunk and limbs seen in individuals with RS (Perry, 1991).

Physical ability in general is reported to decline steadily with age. Adult women are reported to lose the ability to walk, be prone to muscle wasting, rigidity and spasticity (Hagberg, 1993). However, such deterioration may not

be inevitable. For example, Naidu et al. (1986) described eight RS individuals aged over 15 years who were still able to walk. The reports of motor deterioration are based on observations of adult women. RS has only been widely recognised for the last 17 years. These adult women are likely to have been diagnosed late in life. It is now well-know that progressive motor disability can be associated with RS and therapeutic efforts are often targeted to prevent possible motor deterioration (Braddock, Braddock, & Graham, Jr., 1993). These efforts may help to prevent some of the motor deterioration currently observed in RS adults.

1.2.4.3 Scoliosis

Scoliosis (curvature of the spine) has been reported in at least half of the females with RS (Coleman et al., 1988; FitzGerald, Jankovic, & Percy, 1990a; Hennessy & Haas, 1988; Naidu et al., 1986). The scoliosis is reported to become progressively worse (Harrison & Webb, 1990; Keret, Bassett, Bunnell, & Marks, 1988) and may contribute to some of the other problems in RS including walking balance and breathing difficulties (Perry, 1991). Progression of scoliosis can be managed with intensive physical therapy (Lidstrom, Stokland, Hagberg, 1994) but surgery may be required if there is severe curvature of the spine that causes pain or loss of function (Huang, Lubicky, & Hammerberg, 1994).

1.2.4.4 Feeding difficulties

Problems with feeding include regurgitation and difficulties in chewing and swallowing. These difficulties mean that individuals with RS find it difficult to take solid food. For example, Thommessen et al. (1992) investigated feeding in ten females aged 3-16 years. Five were fed on pureed food only, four with both solid and pureed food, only one girl ate solid food.

The difficulties in feeding reflect poor oral-motor skills. Budden et al. (1990) studied oral-motor function in 20 individuals with RS aged from 3 years 11 months to 19 years using the Sequenced Inventory of Communicative Development (Hedrick, Prather, & Tobin, 1975). Apart from one individual

who required gastrostomy, all individuals were eating pureed soft food and had difficulty chewing food and using their tongues effectively. A change in oral-motor tone of the cheeks, lips and tongue was in seen from hypotonicity (diminished tone) before skills were lost to hypertonicity (excessive tone) after skills were lost. Morton, Bonas, Minford, Kerr, and Ellis (1997) investigated the feeding abilities of 20 individuals with RS aged 1.5 to 33 years. All individuals showed poor tongue movements. Seven showed involuntary movements of the tongue. Difficulties in chewing and swallowing were evident in all cases.

1.2A. 5 Vasomotor disturbances

Individuals with RS are reported to have cold and clammy hands and feet. The feet remain small relative to their hands. It is thought that these are symptoms of increased sympathetic tone (lyama, 1993).

1.2.4.6 Seizures

Epilepsy is present in 70-80% of individuals with RS (Coleman et al., 1988; Naidu et al., 1986; Nomura, Segawa, & Hasegawa, 1984). Coleman et al. (1988) found 72% of their sample of 63 cases had some sort of seizure disorder. The diagnoses included absence and drop attacks, staring spells and petit mal, minor motor seizures, grand mal seizures and myoclonic jerks. The age of onset of seizures varied from one to eight years, with a mean age of 3 years 7 months. The breathing irregularities and jerky movements seen in individuals with RS may lead to an overestimation of the number of seizures (Naidu et al., 1986). The majority of cases of RS have been found to have abnormal EEG’s after the age of two years, even those cases who do not have actual seizures (Aldrich, Garofalo, & Drury, 1990; Glaze, Frost, Jr., Zoghbi, & Percy, 1987a; Robb, Harden, & Boyd, 1989; Trauner & Haas, 1987). EEG abnormalities are included as part of the supportive diagnostic criteria for RS (see section 1.2.2).