Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.

Abstract

The aim of the study was to determine the level of functional independence in adult patients with previously undiagnosed or untreated phenylketonuria (PKU). The study was conducted among 400 intellectually impaired adult residents of Social Welfare Homes in South-Eastern Poland born prior to the introduction of neonatal PKU screening programs. PKU was screened by filter paper test using tandem mass spectrometry methods, and confirmed by gas chromatography-mass spectrometric analysis of PKU organic acids in urine. Degree of functional independence included the assessment of activities of daily living (Barthel Index) and measures of balance and gait (Tinetti scale). Eleven individuals with previously untreated PKU were identified whereby eight presented with moderate disability and three with mild disability. Six had a high risk of falls and five had a moderate risk of falls. This study indicates that there is considerable number of undiagnosed PKU patients within the Polish population who require assessment and management in order to reduce the impact of the neurological and neuropsychiatric problems associated with the condition. Appropriate therapy for those with undiagnosed PKU should, in particular, address the risk of falls.

The complete European guidelines on phenylketonuria: diagnosis and treatment

“…Untreated patients with severe intellectual disability and challenging behavioural problems have high support needs [ 407 ], and some may live in social welfare homes [ 408 , 409 ]. An increase in life expectancy suggests the importance of their identification and the provision of long-term care planning [ 410 ].…”

Geci̇kmi̇ş Tani İle Tedavi̇ Edi̇lmeyen Geri̇atri̇k Feni̇lketonüri̇: Icf Temelli̇ Bi̇r Vaka Raporu

“…Basically, in our case, physical disabilities caused problems in his self-care and participation in life accompanying with cognitive problems, environmental and personal factors are negatively affecting his quality of life. Mazur et al evaluated the degree of independence with the Barthel ADL Scale and the Tinetti Balance Scale in 11 adults untreated PKU patients (13). They stated that 8 of these individuals had moderate insufficiency and 3 had mild insufficiency, and 6 people had a high risk of falling and 5 people had a moderate risk of falling.…”

Phenylketonuria, co‐morbidity, and ageing: A review

“…Mazur et al studied 11 people with previously undiagnosed or untreated PKU (aged 23-59 years). 66 Using the Barthel index, 73% had moderate and 27% mild disability. The Tinetti score (an assessment of gait and balance 67,68 ) for the group was 14.55 (scores of 19-24 indicate a risk of falls), 55.5% had a high and 45.5% a moderate falls risk.…”

“…Whether people with PKU are at risk of frailty is likely to depend on treatment history and lifetime metabolic control. Mazur et al studied 11 people with previously undiagnosed or untreated PKU (aged 23‐59 years) . Using the Barthel index, 73% had moderate and 27% mild disability.…”

“…Using the Barthel index, 73% had moderate and 27% mild disability. The Tinetti score (an assessment of gait and balance) for the group was 14.55 (scores of 19‐24 indicate a risk of falls), 55.5% had a high and 45.5% a moderate falls risk . There are no similar studies of ETAwPKU.…”