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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