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 |
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 |