Наблюдение детей с диагнозом Ахондроплазия | Health Supervision for Children With Achondroplasia 1


Оригинал статьи

Американская академия педиатрии
Отчет клинических исследований
(Руководство для клинициста в оказании медицинской помощи детям)
Tracy L. Trotter, MD; Judith G. Hall, OC, MD; and the Committee on Genetics
Наблюдение детей с диагнозом Ахондроплазия

 ABSTRACT. Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families. Pediatrics  2005;116:771–783; achondroplasia, short stature, children, health supervision. 
РЕЗЮМЕ. Ахондроплазия является наиболее распространенным заболеванием, следствием которого является низкорослость с непропорциональным (укороченным) развитием конечностей.
Существует достаточно данных относительно естественного развития и необходимого упреждающего наблюдения детей с этим диагнозом.
...
Большинство детей с ахондроплазии просрочившим моторных вех, проблемы с постоянной или периодически повторяющейся дисфункции среднего уха, и кланяясь голеней. Реже, младенцы и дети могут иметь серьезные последствия для здоровья, связанные с гидроцефалия, краниоцервикальной сжатия узел, прописные обструкцией дыхательных путей, или грудопоясничного кифоз. досрочный помощь должна быть направлена на выявление детей которые подвергаются высокому риску и вмешательства, чтобы редотвратить серьезные последствия. Данный отчет предназначен, чтобы помочь педиатру уход за детьми с ахондроплазией и членов их семей. Pediatrics 2005; 116: 771-783; ахондроплазии, низкорослость,
дети, здоровье надзор.
...

Article Figures & Data

Figures

  • Fig 1.Fig 1.

    Height for males with achondroplasia (mean ± 2.8 standard deviation) compared with normal standard curves. The graph was derived from 189 males. (Reproduced with permission from J Pediatr. 1978;93:435-438.)

     

     

  • Fig 2.Fig 2.

    Height for females with achondroplasia (mean ± 2.8 standard deviation) compared with normal standard curves. The graph was derived from 214 females. (Reproduced with permission from J Pediatr. 1978;93:435-438.)

     

     

  • Fig 3.Fig 3.

    Developmental screening tests in achondroplasia. The bar scale shows the percentage of achondroplastic children passing the item; the black triangle on top of the bar shows the age at which 90% of normal children pass the same item. The graphs were derived from 197 affected individuals, obtained by questionnaire. (Reproduced with permission from Am J Med Genet. 1981;9:19-23.)

     

     

  • Fig 4.Fig 4.

    Head circumference for males with achondroplasia compared with normal curves (dashed lines). The graph was derived from 189 males. (Reproduced with permission from J Pediatr. 1978;93:435-438.)

     

     

  • Fig 5.Fig 5.

    Head circumference for females with achondroplasia compared with normal curves (dashed lines). Data were derived from 145 females. (Reproduced with permission from J Pediatr. 1978;93:435-438.)

     

     

  • Fig 6.Fig 6.

    Height-by-weight standards in achondroplasia: males. (Reproduced with permission from Am J Med Genet. 1996;62:255-261.)

     

     

  • Fig 7.Fig 7.

    Height-by-weight standards in achondroplasia: females. (Reproduced with permission from Am J Med Genet. 1996;62:255-261.)

      

Tables

 

TABLE 1.

Achondroplasia Guidelines for Health Supervision

 
  Prenatal Infancy, 1 mo to 1 y of Age Early Childhood, 1 to 5 y of Age Late Childhood Adolescence
Neonatal 2 mo 4 mo 6 mo 9 mo 12 mo 15 mo 18 mo 24 mo 3 y 4 y 5 to 13 y, Annual 13 to 21 y, Annual
Diagnosis                            
    Radiography   Whenever the diagnosis is suspected                
    Review phenotype   Whenever the diagnosis is suspected                
    Review proportions   Whenever the diagnosis is suspected                
    Molecular testing [FGFR3] See text When diagnosis is not certain                
Genetic counseling                            
    Early intervention   X                        
    Recurrence risks   X         X             X
    Reproductive options             X           X X
    Family support   X         X     X     X X
    Support groups   X         X     X     X X
    Long-term planning             X     X     X X
Medical evaluation                            
    Growth/weight/OFC   X X X X X X X   X   X X X
    Orthopedic consult                            
    Neurology consult                            
    Hearing             X R     X R   X R X R  
    Social readiness             S     S   S S  
    Orthodontics                       R R R
    Speech               S/O S/O S/O S/O O O  
Medical evaluation                            
    Radiography, only to make diagnosis or if complication                            
    CT/MRI brain/cervical spine   X                        
    Polysomnography   X As indicated
Social adjustment                            
    Psychosocial         S   S     S     S S
    Behavior and development   S/O S/O S/O S/O   S/O S/O S/O S/O     S/O S/O
    School                     O   O O
    Sexuality                           X
 

 

These guidelines ensure compliance with AAP recommendations for preventive pediatric health care. FGFR3 indicates fibroblast growth factor receptor type 3; X, to be performed; S, subjective, by history; O, objective, by a standard testing method; R, discuss referral to a specialist; →, continue to monitor.

 


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