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Table 2 LATAM ACH studies evaluating patient-important or economic burden outcomes accountable for the meta-analysis

From: Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Author, year

South or Central America

LATAM country

Scenario

# of patients

Age, Mean (SD), y

Female, %

BMI, Mean (SD)

Exclusion criteria

Individual and/or population outcomes

Type of burden outcomes

Specify outcomes

Case series studies

           

Alves [34]

South America

Brazil

Neurosurgery Outpatient Clinic of Instituto Fernandes Figueira / Fiocruz

31

3.23

45.17

NR

Achondroplasia associated with other genetic diseases

Individual

Spinal issues including stenosis, compression and associated pain

Craniocervical decompression surgery after displaying signs of medullary suffering and alteration of tendon reflexes; surgical intervention (craniocervical decompression surgery and endoscopic third ventriculostomy)

          

Nervous system disorders

Hydrocephalus as a neurosurgical complication; endoscopic third ventriculostomy was performed on one patient, successfully, that presented alterations of eye background with optic papilla edema, arterial hypertension, and convulsive crises; neurosurgical complications; accidental dural opening; need for reoperation to correct CSF fistula; surgical intervention (craniocervical decompression surgery and endoscopic third ventriculostomy)

          

Others

Blood transfusion; length of ICU; length of hospitalization

Tello et al. [73]

South America

Argentina

Dr. Juan P. Garrahan Pediatric Hospital

76

NR

NR

NR

NR

Individual

Spinal issues including stenosis, compression and associated pain

Needed surgical procedure, given the poor spinal cord compliance to deformations; dorso-lumbar kyphosis; posterior fossa decompression; spinal cord liberation alone; anterior arthrodesis plus posterior instrumented arthrodesis; anterior arthrodesis, associated with fibular grafting followed by posterior simple arthrodesis; the same technique was employed on 2 other patients, followed by posterior arthrodesis instrumented with pedicular screws

          

Nervous system disorders

Neurological problems

Cross-sectional studies

           

Arita et al.£ [40]

South America

Brazil

Heliopolis Hospital, Sao Paulo

11

40.27 (8.09)

45.45

33.75 (7.94)

NR

Individual

Ear, nose, throat and speech disorders

Mean number of teeth; bone fracture; mean cortical width; Klemetti index

          

Spinal issues including stenosis, compression and associated pain

Normal density; osteopenia/osteoporosis; mandibular cortical erosion in all sample

Ceroni et al. [5]

South America

Brazil

Medical School of the University of Sao Paulo (HC-FMUSP)

39

10.2

NR

NR

Patients who did not present a molecular study

Individual

Ear, nose, throat and speech disorders

Motor developmental delay; speech delay; recurrent infection of the middle ear; persistent middle ear fluid; hearing loss; ventilation tube insertion

          

Cardio-respiratory-metabolic disorders

Sleep disturbance; sleep apnea; adenotonsillectomy; excessive snoring; obesity

          

Pain

Lower limb pain; excessive bowing of limbs

          

Depression, anxiety, bullying, isolation, somatization, etc

Depression

          

Nervous system disorders

Hydrocephalus; epilepsy

          

Perinatal complications

Perinatal intercurrence; premature, presenting respiratory distress, pathological jaundice and deglutition disturbance; required three months of hospitalization

          

Other

Bilateral Wilms’ tumor

Escobar [37]

Central America

Mexico

National Institute of Pediatrics of the Ministry of Health

87

NR

39

NR

Patients with other achondrodysplasias

Individual

Nervous system disorders

Hydrocephalus; paresthesias; paresias; hypotonia

          

Spinal issues including stenosis, compression and associated pain

Spinal compression; surgical treatment, with posterior laminectomy being the procedure performed

          

Cardio-respiratory-metabolic disorders

Apnea followed by death; neuromuscular blockers

          

Ear, nose, throat and speech disorders

Recurrent otitis media; required surgical treatment (placement of ventilation tubes)

          

Orthopedic complications

Orthopedic complication; corrective treatment; lengthening treatment

          

All-cause mortality

Sudden death

          

Others

Eye complications

Fano and Lejarraga [56]

South America

Argentina

Consultancy services for the growth and development of the National Hospital of Pediatrics "Prof. Dr. J. P. Garrahan"

96

3.07

47.91

NR

NR

Individual

Ear, nose, throat and speech disorders

Relapsing otitis media; any degree of hearing loss; delay in speech development; hipotonia

          

Cardio-respiratory-metabolic disorders

Recurrent bronchitis; pneumonia; snoring during sleep; surgical requirement for presenting signs of cervicomedullary compression plus coexistence with severe respiratory illness; obesity

          

Spinal issues including stenosis, compression and associated pain

Rigid kyphosis; spinal compression requiring laminectomy

          

Nervous system disorders

Any neurological complications; surgical requirement for presenting signs of cervicomedullary compression (decompressive surgery of foramen magnum); surgical requirement for presenting signs of cervicomedullary compression plus coexistence with severe respiratory illness; delay in motor development; hydrocephalus that required ventriculoperitoneal shunt

          

Premature mortality

Patients died of respiratory failure

          

Others

Sustained hypoxemia requiring home oxygen supply due to sequelae of lung disease after infection

Junior [29]

South America

Brazil

Rehabilitation hospital in Minas Gerais

24

NR

54.16

NR

NR

Individual

Nervous system disorders

Neurological manifestations; low thoracolumbar comprehensive myeloradiculopathy

Medeiros et al., Medeiros et al. [75, 76]

South America

Brazil

Medical Genetics outpatient clinic at Hospital Universitário Alcides Carneiro (HUAC) from the Federal University of Campinas Grande

8

NR

37.5

NR

NR

Individual / Population

Ear, nose, throat and speech disorders

Hypertrophy of adenoids; snoring; tonsillectomy; thickening of the tympanic membrane; hearing loss; recurrent otitis media

          

Cardio-respiratory-metabolic disorders

Apnea index moderately highly increased; desaturations during sleep, but not accompanied by electrocardiographic change

          

Environmental burden

Challenges in physical activity

Petitto and Baumotte [66]

South America

Brazil

Participants' home

5

25

NR

33.66

NR

Individual

Psychosocial complications (i.e., impact of the disease on patient)

Body image

Rodriguez-Gomez et al. [70]

Central America

Puerto Rico

Residents of Puerto Rico

22

39.6

68.2

NR

NR

Individual

Depression, anxiety, bullying, isolation, somatization, etc

Mild to severe depressive symptoms; mild to severe symptoms associated to anxiety; mild to severe symptoms associated with hopelessness; mild to severe symptoms in at least one of the sub-scales in Derogatis Symptom Checklist-90-Revisited (SCL-90-R) particularly the obsessive-compulsive, paranoid and depressive subscales; mild somatization; mild interpersonal sensitivity; mild hostily; mild to severe paranoid ideation; mild to moderate psychoticism

          

Cardio-respiratory-metabolic disorders

At least one complication (hypertension, diabetes, rheumatoid arthritis, asthma, scoliosis, thyroid problems, neuropathy, psoriasis, gastritis and/or sleep apnea)

          

Nervous system disorders

 
          

Ear, nose, throat and speech disorders

 
          

Spinal issues including stenosis, compression and associated pain

 
          

Others

Diabetes, rheumatoid arthritis, thyroid problems, neuropathy, psoriasis, and gastritis

Sanchez et al. [72]

South America

Venezuela

Ruiz y Páez Hospital in Ciudad Bolívar

10

NR

NR

NR

NR

Individual

Premature mortality

Died at 10 months of age due to respiratory complications

          

Nervous system disorders

Convulsions and mental retardation

          

Others

Acanthosis Nigricans

  1. ACH: achondroplasia; ICU: intensive care unit; LATAM: Latin America; NR: not reported; NA: not applicable SD: standard deviation; BMI: body mass index
  2. #Number
  3. £Comparative cross-sectional studies