Re: behaviors. Not a dx-just common features

[Guest guest]

Although this recent article suggests the appearance of autism in Charge,

they also state that

" Current autism diagnostic instruments are insufficiently tailored to

deaf-blind individuals. "

Very much what the Foundation has said-the testing does not adequately

portray the deaf-blind.

Somewhere in the middle it says:

" Severe behaviour disturbances with major impact on family life were common

in the individuals with autism syndromes, especially in the CHARGE group. "

_https://gupea.ub.gu.se/dspace/handle/2077/3306_

(https://gupea.ub.gu.se/dspace/handle/2077/3306)

from: Goteborgs Universitet , Inst of neuroscience and Physiology April

12, 2007

The applicability of the autism diagnostic instruments used in individuals

with multiple disabilities (such as in these BPCs) was analysed. Results: There

was a high rate of autism syndromes (Möbius 48%, CHARGE 68%, OAV 42%) across

all BPCs. Severe behaviour disturbances with major impact on family life

were common in the individuals with autism syndromes, especially in the CHARGE

group. Learning disability (LD) was a common finding (Möbius 32%, CHARGE 72%,

OAV 25%), possibly reflecting the link between autism syndromes and LD.

Visual and/or hearing impairments affected only a few subjects with Möbius, but

were very common and associated with autism syndromes in the CHARGE/OAV groups.

Cerebral abnormalities were recorded in one fifth of radiologically examined

individuals with Möbius, 74% with CHARGE, and 63% with OAV. Autism

syndromes, LD and cerebral abnormalities tended to occur together in the same

individuals. Cranial nerve dysfunction was present in all Möbius individuals,

in 55%

of the CHARGE, and in 60% of the OAV group. Pre-, perinatal and/or family

factors of possible interest were recorded in several individuals in each BPC.

The diagnostics of autism syndromes in these BPCs presented difficulties,

notably due to sensory impairments, cranial nerve palsies and LD. The

diagnostic

difficulties increased with the number and severity of disabilities.

Discussion and conclusions: This study suggests that autism syndromes always

should

be considered in subjects with Möbius/CHARGE/OAV. In the CHARGE/OAV groups,

cerebral abnormalities occurred frequently in subjects with autism syndromes,

indicating that autism symptoms were not only attributable to sensory

impairments. The frequent occurrence of cerebral abnormalities in those with

autism

syndromes, together with the fact that the majority of those with LD in all

the three BPCs had an autism syndrome, could be suggestive of a specific link

between autism syndromes and Möbius/CHARGE/OAV. The associated overall

clinical findings, including the frequent occurrence of cranial nerve

dysfunction

found in all three BPCs, implicate the early embryonic brain, including the

brain stem, as a possible area of core dysfunction. The use of an extensive

battery of autism diagnostic instruments is essential in individuals with

multiple disabilities. Current autism diagnostic instruments are insufficiently

tailored to deaf-blind individuals. Key words: autism syndromes, behavioural

phenotype conditions, Möbius, CHARGE, OAV, ADI-R, CARS, ABC, brain

stem " __________________end of article

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