Skip to main content

Table 2 Outcome measures in PKU patients

From: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

 

Pediatric patient

Adolescent patient

Adult patient

Outcome measures

IQ

Griffiths-III; WPPSI-IV; WISC-IV; LEITER-3 (in the case of language barriers and/or people with reduced/impaired verbal abilities)

WISC-IV; WAIS-IV; LEITER-3 (in the case of language barriers and/or people with reduced/impaired verbal abilities)

WAIS-IV; LEITER-3 (in the case of language barriers and/or people with reduced/impaired verbal abilities)

Executive Functions

BRIEF-P; BRIEF-2

BRIEF-2

BRIEF-Adult

Assessment of neurocognitive domains

In case of clinical worsening/poor compliance/comorbidity:

  

Planning, mental flexibility and problem solving

WCST; TOL

WCST; TMT A-B; TOL; Semantic fluency

WCST; TMT A-B; TOL; Semantic fluency

Inhibitory control

Inhibition Test (NEPSY-II)

Inhibition Test (NEPSY-II)

SCWT

Visual-spatial memory

ROCF copy and memory

ROCF copy and memory; Corsi Test (Forward and Reverse)

ROCF copy and memory; Corsi Test (Forward and Reverse)

Visual-motor coordination

GPT; DSST; VMI

GPT; DSST; TMT A; VMI

GPT; DSST; TMT A

Short-term memory/Working memory

DGS (Forward and Reverse)

DGS (Forward and Reverse); Corsi Test (Forward and Reverse)

DGS (Forward and Reverse); Corsi Test (Forward and Reverse)

Processing speed

PSI (Wechsler scales); DSST

DSST; TMT A; PSI (Wechsler scales)

DSST; TMT A; PSI (Wechsler scales)

Sustained attention

Bells Test

TMT A-B

TMT A-B

Verbal fluency

Semantic fluency; Phonemic fluency

Semantic fluency; Phonemic fluency

Semantic fluency; Phonemic fluency

Verbal memory and learning

DGS (Forward and Reverse); Word List

RAVLT; Story Recall Test

RAVLT; Story Recall Test

Psychological classification (in case of clear emergence of specific symptoms)

Specialist counselling; Psychopathological status

Specialist counselling; Psychopathological status

Specialist counselling; Psychopathological status

Behavioral emotional assessment

CBCL 1 ½-5; CBCL 6-18

CBCL 6-18; YSR

ASR; BDI-II; STAI

Quality of life assessment

PKU-QoL

PKU-QoL

PKU-QoL

Neurological evaluation

Neurological examination

Neurological examination

Neurological examination

Tremor assessment

FTMCRST

FTMCRST

FTMCRST; TETRAS

Instrumental Assessment

Brain MRI

Brain MRI in case of neurological signs

Brain MRI in case of neurological signs

Brain MRI in case of neurological signs

  1. WPPSI-IV Wechsler Preschool and Primary Scale of Intelligence IV edition, WISC-IV Wechsler Intelligence Scale for Children IV edition, WAIS-IV Wechsler Adult Intelligence Scale IV edition, BRIEF Behavior Rating Inventory of Executive Function, BRIEF-P Behavior Rating Inventory of Executive Function–Preschool Version, BRIEF-2 Behavior Rating Inventory of Executive Function–School Version, BRIEF-A Behavior Rating Inventory of Executive Function–Adult Version, WCST Wisconsin Card Sorting Test, TMT Trail Making Test, TOL Tower of London, VMI Visual-Motor Integration, SCWT Stroop Color and Word Test, ROCF Rey–Osterrieth complex figure test, GPT Grooved Pegboard Test, DSST Digit symbol substitution test, DGS Digit Span, PSI Processing Speed Index, RAVLT Rey Auditory Verbal Learning Test, CBCL Child Behaviour Checklist, YSR Youth Self Report, ASR Adult Self Report, BDI Beck Depression Inventory, STAI State-Trait Anxiety Inventory, QoL Quality of Life, ASEBA Achenbach System of Empirically Based Assessment, FTMCRST Fahn–Tolosa–Marin Clinical Rating Scale for Tremor, TETRAS Tremor Research Group Essential Tremor Rating Scale
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172