neurodegenerative and metabolic causes of developmental delay Flashcards
define rett syndrome
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett syndrome primarily affects females. Most babies with Rett syndrome seem to develop as expected for the first six months of lif
symptom of rett syndrome 6
such as slowed head growth,
abnormal hand movements,
hyperventilating,
screaming or crying for no apparent reason,
problems with movement and coordination,
loss of social interaction and communication
define phenylketonuria
disorder of phenylalanine metabolism
what defect causes phenylketonuria
defect in phenylalanine hydroxylase
gentic pattern of phenylketonuria
autosomal recessive
symptoms of phenylketonuria 6
presents by 6 moths w develpomental delay
fair hair and blue eyes
learning difficulties
seziures -typically infantile spasms
eczema
musty odour to urine and sweat
define autism
neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities
clinical features of autism 3
Social communication impairment
Repetitive behaviours
Impaired social interaction children frequently play alone I’m on interested in being with other children
nonverbal cues - eye gaze, facial expression and gestues
genetic inheriatance of DMD
x-linked recessive
pathophys of dmd
dystrophin gene affected which is required for normal muscular function
features of DMD 4
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower’s sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment
