Down Syndrome

Down Syndrome is the  most cromosomel disorder. The cells affected individuel have 47 cromosome rather then 46. Additional genetic material alters the course of development causes the characteristics associated with Down syndrome.




    Cause: 

  • Older mother(after 35 yeas than the ist baby
  • Increase cromosome both are affected.

 Physical Characteristics:


 Baby may have Down syndrome visible signs are:
  • Nose bone missing  
  • Excess skin in the back of the neck.
  • A shorter-than-normal femur (thigh) bone
  • Abnormal Ears.
  • Small head at birth.
  • Splanting eyes.


There Are Different Types of Down Syndrome.

TRISOMY 21 (NONDISJUNCTION):

 

 

  MOSAICISM:

 

 

 

 (NONDISJUNCTION)

Clinical Feature:

  • Flat face
  • Low set hear
  • Upward slanting eyes
  • Small noses
  • Flat nasal bridge
  • Small mouth
  • Short arm
  • Short hands
  • A gap between the Ist and 2nd toes
  • Generally down syndrome are friendly are sociable
  • Low muscle tone
  • Head microcephalus
  • Joint Highpermobility
  • Development delay
  • Barning difficulty
  • Hearing problem
  • Visual problem
  • Congenital heart disease
  • Gastrointestinal problem 


  inical feature:

Problem list:

  • LOw grade muscle power
  • Low muscle tone
  • Joiny hypermobile
  • Development delay
  • Learning difficulties
  • Visual impairment
  • Hearing impairment


Physiotherapy managment:

  • Strenthening exercise- playing activities,upper-ball throwing,lower- kicking ball,group therapy is most important.5-7 years baby-manual resisting,mechanical resistance-dumple,cycling,squatting,breading rolling-left to right,SLR
  • Low muscle tone-weight bearing-kneeling,four point kneeling,ice trapping,hydrotherapy.
  • Joint hypermobility-shoulder joint-shoulder silling use.knee joint hyperextension-back sleb for knee,ankle joint for week-specific shoe use
  • Development delay-2 year baby sitting balance when sitting then standing balance then no walking balance
  • Learning difficulties-delay of intellectual development
  • physical development-bed rolling,bridging,haif kneeling,sitting,chair sitting-stading,standing balance-waiking
  • Visual imoirment-Visual stimulator more than less stimulli,torch light,coulerful object,candle
  • Hearing impairment-Excess sound than the less sound.

Advise patient:

  • Exercise cxontinue
  • Increase development work.

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