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Scoliosis in the Rett syndrome
Scoliosis in the Rett Syndrome Vanja A Holm, MD and Howard A King, MD
Of 32 patients with classical Rett syndrome, radiographs of the spine could be obtained in 30; two had moved. Five (17%), ranging in age from 3.2-11.5 years, had a curve of 10° or less. Twenty-five (83%) had scoliosis. The age at first diagnosis of scoliosis ranged from 4.3 to 18 years of age. The curves ranged from 10° to 86° at a mean age of 14.9 years. Eight of the 21 curves, 38 percent, showed progression, which was first noticed from just before 5 to after 18 years of age. Bracing was done in five of the younger girls with progressive curves at ages 8.3-1004 years. Three required surgery, performed at ages 10.9, 16.2 and 17.3 years respectively. Physicians following these patients need to refer them for orthopedic care at the first suspicious sign of scoliosis. Orthopedic surgeons taking care of children with the Rett syndrome (RS) should be aware of the clinical unpredictability of the scoliosis in this condition. Key words: Rett syndrome, scoliosis. Holm VA, King HA. Scoliosis in the Rett syndrome Brain Dev 1990;12:151-3
Hagberg and colleagues [1] in their now classical 1983 paper on the Rett syndrome (RS) states that scoliosis was present in all girls with RS over 15 years of age. Keret et al [2] reported at the 1987 meeting of the Scoliosis Research Society that 7 of 10 girls with RS had C-shaped neuromuscular curves averaging 30° with a range from 22° _48° at an average age of 11 years 7 months. They reported progression despite bracing. Four of their patients had spinal fusions. The overall incidence of scoliosis was 80 percent (one additional patient developed scoliosis after moving away). Roberts and Comer [3] recently reported on orthopedic aspects in 22 patients with RS. Sixteen had scoliosis of 5° or more. Serial measurements in 11 patients showed a mean increase in the scoliosis of 11 ° per year. However, no detailed analysis of radiographic findings of the spine on an unselected group of children with RS is available in the literature. This paper will report on such a study.
MATERIALS AND METHODS Thirty-two patients have been diagnosed with classical RS
From the Child Development and Mental Retardation Center and Department of Pediatrics (VAH) , and Children's Hospital and Medical Center and Department of Orthopedics (HAK), University of Washington School of Medicine, Seattle. Correspondence address: Dr. Vanja A Holm, Child Development and Mental Retardation Center, WJ-10, University of Washington, Seattle, WA 98195, USA.
after a complete evaluation at the Child Development and Mental Retardation Center in Seattle. Patients not fulft1ling all the criteria for RS [4] have been excluded, including two patients with forme fruste [5, 6]. Patient's evaluated in a variety of community settings have also been excluded as it was impractical to obtain spinal X-rays from them. AP of tbe spine was obtained in upright position.
RESULTS No radiographs could be obtained in two patients because they had moved. Five of the remaining 30, 17 percent, had no scoliosis or a curve of 10° or less (Table 1). Twenty-five, 83 percent, had scoliosis. Of the patients without scoliosis, only one, the youngest, was ambulatory. The age range of these patients was 3.2 to 11.5 years with a mean of 6.6 years. Thus, all patients over 11.5 years of age had scoliosis. See Table 1. Of the 25 patients with scoliosis detailed information is available on 21 and is presented in Table 2. The youngest patient with scoliosis was a 4 year old non-ambulatory girl with a 13° curve. The age range at first diagnosis of scoliosis ranged from 4.3 to 18 years of age with a mean of 9.5 years. The curves range from 10° to 86°. Eight of the 21 curves, 38 percent, showed progression. Five of those occurred in girls who were ambulatory. The chronological age of the patients ranged from 7.5 to 21.9 years with a mean of 14.9 years. Progression was rust noticed from just before 5 to after 18 years of age. Of the nine patients who were 15 years of age or older, four, or 44 percent,
Table 1 Rett syndrome patients without scoliosis CA
Ambulation
Age 1st X-ray
X-ray findings
03-02 03-11 08-01
+
03-02 03-11 08-00 06-05 11-06
No scoliosis No scoliosis No scoliosis
09-01 11-07
No scoliosis No scoliosis
Age range at time of X-ray: 3.2 to 1l.5 years, mean 6.6 years
had progressive curves. Bracing was done in five of the younger girls with progressive curves at ages 8.3 to lOA years with a mean of 7.6 years. Two of the five were ambulatory. Three of them have so far required surgery which was done at ages 10.9, 16.2 and 17.3 years respectively with a mean of 14.8 years. The same two girls were ambulatory before surgery. One patient had a Harrington rod placed, two had Lugue-Galveston procedures performed. There were no surgical complications and the gait seemed to improve in both patients who were ambulatory.
DISCUSSION In our experience, as well as the experience of others [13] , scoliosis is usually present in RS. It might begin as early as in the preschool age and seems to become inevitable with time. Scoliosis in RS is not always progressive but close to half of the cases seems to be so. From our experience, with a relatively small number of patients, it is not possible to predict whose scoliosis is going to progress or at what age progression will occur. Brace treatment is recommended in younger patients as it allows trunk growth to avoid shortening of stature with early surgery. Surgery can be done safely if associated medical problems are recognized. The surgery does not interfere with ambulation, in fact might improve the quality of the gait. Severe scoliotic curves in patients who are ambulatory, as occurs in RS, is not common in neuromuscular scoliosis in other conditions, for example, cerebral palsy, muscular dystrophy and meningomyelocele [7] . Scoliosis in PraderWilli syndrome is a case in point. Eighty-seven percent of persons with this disorder have scoliosis [8] and are ambulatory. In our own experience with over 100 such patients, only three have needed braces and one single patient came to surgery.
CONCLUSIONS AND RECOMMENDATIONS 1. Clinical assessment of the spines of girls with RS for the presence of scoliosis is difficult because of the hypo-
152 Brain & Development, Vol 12, No 1, 1990
Table 2 Rett syndrome patients without scoliosis CA
Ambulation
04-08 06-03
+
06-03 07-00
04-03 05-11 06-03
X-ray findings treatment
T6-L413°
Tl-Tl2 l2 0 T-2LlI00/Ll-S44°
+
06-09 04-03
T8-L41O°
+
07-05
T2-TlI2°/Tl1-U11°
07-05 07-05
Age 1st X·ray
T2-L4 22°, brace control
08-09
06-06
T3-T11100/TlI-Lr 16°
09-07
06-11
T4-L2 21 ~; progressed to T4-L4 37°, brace
10-11
10-08
T4-L41O° Tl-T11 5° /T11-L4 14°; rapid progression in brace to Tl-TlO 22° /T11-U 54°, surgery age 10-11 T2-L4 13°; progressed to 22° age 11-04 Tl-L3 38° T2-T816° T2-U 8°; progressing to T10-L4 12° age 15-00 Tl2-L4 18°; same at 15-00 T3-L4 35°; brace; 16-07, 54°; 17-03,64°; surgery age 17-04 T8-L4 18°; 17-05 16°
11-08
+
08-09
12-01
+
10-11
13-01 15-00 15-03
+ +/-
15-03 17-05
+/-
08-04
+
15-00 08-06 14-03 08-00
18-01
+
14-03
18-02
+
09-07
Tl-Tl2 26°/Tl2-U 33°; brace age 10-02; progressed to T3-T11 36°/Tl2-L4 54°; surgery 16-02
09-00
T2-L3 15°; by age 20-00 progressed to T2-L4 86°; no surgery
20-06
21-11
+
18-00
T5-U 23°; by age 20 progressed to 54°; no surgery
24-09
+
15-08
T3-TlO 10°/T11-U 15°; no change by age 24-09
Age range at first time of diagnosis: 4.3 to 18 years, mean 9.6 years.
tonia and lack of cooperation with an adequate examination. Scoliosis is easily over-or under-diagnosed. 2. Developmental pediatricians and child neurologists following patients with RS need to be aware of the commonness of scoliosis in these patients and sensitize families and therapists to the symptoms of scoliosis. 3. Patients with suspicious signs of scoliosis should be referred for orthopedic care. 4. Orthopedic surgeons taking care of children with RS
should be aware of the clinical unpredictability of the scoliosis in RS as compared to scoliosis in other neuromuscular disorders; clinical and radiological assessments of girls with RS who have scoliosis needs to be obtained at least every 6 months. In conclusion, even though the reason for the unusual pattern observed in the development of scoliosis in RS is unknown, treatment implications are becoming clear.
2. 3. 4. 5.
ACKNOWLEDGMENTS This study was in part supported by Maternal and Child Health Services, Bureau of Community Health Services, Department of Health and Human Services, project 913 (MCT-00913). REFERENCES 1. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful
6.
7.
8.
hand use in girls: Rett's syndrome: report of 35 cases. Ann NeuroI1983;14:471-9. Keret D, Bassett GS, Bunnell WP, Marks HG. Scoliosis in Rett syndrome [Abstract]. Scoliosis research society, 1988; 138. Roberts AP, Conner AN. Orthopedic aspects of Rett's syndrome: Brief report. Bone Joint Surg (Br) 1988;70-B:674. The Rett syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol, 1988;23: 425-8. Hagberg B, Rassmussen P. "Forme fruste" of Rett syndrome: a case report. Am J Med Genet 1986;24(suppll): 175-81. Percy AK, Zogbi HY, Glaze DG. Rett syndrome: Discrimination of typical and variant forms. Brain Dev (Tokyo) 1988;9: 458-61. Bleck EE. Deformities of the spine and pelvis in cerebral palsy. In: Samilson RL, ed. Orthopaedic aspects of cerebral palsy, Gin Dev Med. No. 52/53. Philadelphia: J.B. Lippincott Co, 1975:124-44. Holm VA, Laurnen EL. Prader-Willi syndrome and scoliosis. Dev Med Child NeuroI1981;23: 192-201.
Holm and King: Scoliosis in Rett syndrome 153
Of 32 patients with classical Rett syndrome, radiographs of the spine could be obtained in 30; two had moved. Five (17%), ranging in age from 3.2-11.5 years, had a curve of 10° or less. Twenty-five (83%) had scoliosis. The age at first diagnosis of scoliosis ranged from 4.3 to 18 years of age. The curves ranged from 10° to 86° at a mean age of 14.9 years. Eight of the 21 curves, 38 percent, showed progression, which was first noticed from just before 5 to after 18 years of age. Bracing was done in five of the younger girls with progressive curves at ages 8.3-1004 years. Three required surgery, performed at ages 10.9, 16.2 and 17.3 years respectively. Physicians following these patients need to refer them for orthopedic care at the first suspicious sign of scoliosis. Orthopedic surgeons taking care of children with the Rett syndrome (RS) should be aware of the clinical unpredictability of the scoliosis in this condition. Key words: Rett syndrome, scoliosis. Holm VA, King HA. Scoliosis in the Rett syndrome Brain Dev 1990;12:151-3
Hagberg and colleagues [1] in their now classical 1983 paper on the Rett syndrome (RS) states that scoliosis was present in all girls with RS over 15 years of age. Keret et al [2] reported at the 1987 meeting of the Scoliosis Research Society that 7 of 10 girls with RS had C-shaped neuromuscular curves averaging 30° with a range from 22° _48° at an average age of 11 years 7 months. They reported progression despite bracing. Four of their patients had spinal fusions. The overall incidence of scoliosis was 80 percent (one additional patient developed scoliosis after moving away). Roberts and Comer [3] recently reported on orthopedic aspects in 22 patients with RS. Sixteen had scoliosis of 5° or more. Serial measurements in 11 patients showed a mean increase in the scoliosis of 11 ° per year. However, no detailed analysis of radiographic findings of the spine on an unselected group of children with RS is available in the literature. This paper will report on such a study.
MATERIALS AND METHODS Thirty-two patients have been diagnosed with classical RS
From the Child Development and Mental Retardation Center and Department of Pediatrics (VAH) , and Children's Hospital and Medical Center and Department of Orthopedics (HAK), University of Washington School of Medicine, Seattle. Correspondence address: Dr. Vanja A Holm, Child Development and Mental Retardation Center, WJ-10, University of Washington, Seattle, WA 98195, USA.
after a complete evaluation at the Child Development and Mental Retardation Center in Seattle. Patients not fulft1ling all the criteria for RS [4] have been excluded, including two patients with forme fruste [5, 6]. Patient's evaluated in a variety of community settings have also been excluded as it was impractical to obtain spinal X-rays from them. AP of tbe spine was obtained in upright position.
RESULTS No radiographs could be obtained in two patients because they had moved. Five of the remaining 30, 17 percent, had no scoliosis or a curve of 10° or less (Table 1). Twenty-five, 83 percent, had scoliosis. Of the patients without scoliosis, only one, the youngest, was ambulatory. The age range of these patients was 3.2 to 11.5 years with a mean of 6.6 years. Thus, all patients over 11.5 years of age had scoliosis. See Table 1. Of the 25 patients with scoliosis detailed information is available on 21 and is presented in Table 2. The youngest patient with scoliosis was a 4 year old non-ambulatory girl with a 13° curve. The age range at first diagnosis of scoliosis ranged from 4.3 to 18 years of age with a mean of 9.5 years. The curves range from 10° to 86°. Eight of the 21 curves, 38 percent, showed progression. Five of those occurred in girls who were ambulatory. The chronological age of the patients ranged from 7.5 to 21.9 years with a mean of 14.9 years. Progression was rust noticed from just before 5 to after 18 years of age. Of the nine patients who were 15 years of age or older, four, or 44 percent,
Table 1 Rett syndrome patients without scoliosis CA
Ambulation
Age 1st X-ray
X-ray findings
03-02 03-11 08-01
+
03-02 03-11 08-00 06-05 11-06
No scoliosis No scoliosis No scoliosis
09-01 11-07
No scoliosis No scoliosis
Age range at time of X-ray: 3.2 to 1l.5 years, mean 6.6 years
had progressive curves. Bracing was done in five of the younger girls with progressive curves at ages 8.3 to lOA years with a mean of 7.6 years. Two of the five were ambulatory. Three of them have so far required surgery which was done at ages 10.9, 16.2 and 17.3 years respectively with a mean of 14.8 years. The same two girls were ambulatory before surgery. One patient had a Harrington rod placed, two had Lugue-Galveston procedures performed. There were no surgical complications and the gait seemed to improve in both patients who were ambulatory.
DISCUSSION In our experience, as well as the experience of others [13] , scoliosis is usually present in RS. It might begin as early as in the preschool age and seems to become inevitable with time. Scoliosis in RS is not always progressive but close to half of the cases seems to be so. From our experience, with a relatively small number of patients, it is not possible to predict whose scoliosis is going to progress or at what age progression will occur. Brace treatment is recommended in younger patients as it allows trunk growth to avoid shortening of stature with early surgery. Surgery can be done safely if associated medical problems are recognized. The surgery does not interfere with ambulation, in fact might improve the quality of the gait. Severe scoliotic curves in patients who are ambulatory, as occurs in RS, is not common in neuromuscular scoliosis in other conditions, for example, cerebral palsy, muscular dystrophy and meningomyelocele [7] . Scoliosis in PraderWilli syndrome is a case in point. Eighty-seven percent of persons with this disorder have scoliosis [8] and are ambulatory. In our own experience with over 100 such patients, only three have needed braces and one single patient came to surgery.
CONCLUSIONS AND RECOMMENDATIONS 1. Clinical assessment of the spines of girls with RS for the presence of scoliosis is difficult because of the hypo-
152 Brain & Development, Vol 12, No 1, 1990
Table 2 Rett syndrome patients without scoliosis CA
Ambulation
04-08 06-03
+
06-03 07-00
04-03 05-11 06-03
X-ray findings treatment
T6-L413°
Tl-Tl2 l2 0 T-2LlI00/Ll-S44°
+
06-09 04-03
T8-L41O°
+
07-05
T2-TlI2°/Tl1-U11°
07-05 07-05
Age 1st X·ray
T2-L4 22°, brace control
08-09
06-06
T3-T11100/TlI-Lr 16°
09-07
06-11
T4-L2 21 ~; progressed to T4-L4 37°, brace
10-11
10-08
T4-L41O° Tl-T11 5° /T11-L4 14°; rapid progression in brace to Tl-TlO 22° /T11-U 54°, surgery age 10-11 T2-L4 13°; progressed to 22° age 11-04 Tl-L3 38° T2-T816° T2-U 8°; progressing to T10-L4 12° age 15-00 Tl2-L4 18°; same at 15-00 T3-L4 35°; brace; 16-07, 54°; 17-03,64°; surgery age 17-04 T8-L4 18°; 17-05 16°
11-08
+
08-09
12-01
+
10-11
13-01 15-00 15-03
+ +/-
15-03 17-05
+/-
08-04
+
15-00 08-06 14-03 08-00
18-01
+
14-03
18-02
+
09-07
Tl-Tl2 26°/Tl2-U 33°; brace age 10-02; progressed to T3-T11 36°/Tl2-L4 54°; surgery 16-02
09-00
T2-L3 15°; by age 20-00 progressed to T2-L4 86°; no surgery
20-06
21-11
+
18-00
T5-U 23°; by age 20 progressed to 54°; no surgery
24-09
+
15-08
T3-TlO 10°/T11-U 15°; no change by age 24-09
Age range at first time of diagnosis: 4.3 to 18 years, mean 9.6 years.
tonia and lack of cooperation with an adequate examination. Scoliosis is easily over-or under-diagnosed. 2. Developmental pediatricians and child neurologists following patients with RS need to be aware of the commonness of scoliosis in these patients and sensitize families and therapists to the symptoms of scoliosis. 3. Patients with suspicious signs of scoliosis should be referred for orthopedic care. 4. Orthopedic surgeons taking care of children with RS
should be aware of the clinical unpredictability of the scoliosis in RS as compared to scoliosis in other neuromuscular disorders; clinical and radiological assessments of girls with RS who have scoliosis needs to be obtained at least every 6 months. In conclusion, even though the reason for the unusual pattern observed in the development of scoliosis in RS is unknown, treatment implications are becoming clear.
2. 3. 4. 5.
ACKNOWLEDGMENTS This study was in part supported by Maternal and Child Health Services, Bureau of Community Health Services, Department of Health and Human Services, project 913 (MCT-00913). REFERENCES 1. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful
6.
7.
8.
hand use in girls: Rett's syndrome: report of 35 cases. Ann NeuroI1983;14:471-9. Keret D, Bassett GS, Bunnell WP, Marks HG. Scoliosis in Rett syndrome [Abstract]. Scoliosis research society, 1988; 138. Roberts AP, Conner AN. Orthopedic aspects of Rett's syndrome: Brief report. Bone Joint Surg (Br) 1988;70-B:674. The Rett syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol, 1988;23: 425-8. Hagberg B, Rassmussen P. "Forme fruste" of Rett syndrome: a case report. Am J Med Genet 1986;24(suppll): 175-81. Percy AK, Zogbi HY, Glaze DG. Rett syndrome: Discrimination of typical and variant forms. Brain Dev (Tokyo) 1988;9: 458-61. Bleck EE. Deformities of the spine and pelvis in cerebral palsy. In: Samilson RL, ed. Orthopaedic aspects of cerebral palsy, Gin Dev Med. No. 52/53. Philadelphia: J.B. Lippincott Co, 1975:124-44. Holm VA, Laurnen EL. Prader-Willi syndrome and scoliosis. Dev Med Child NeuroI1981;23: 192-201.
Holm and King: Scoliosis in Rett syndrome 153